A case of metacarpal coloboma caused by Tumor-induced Osteomalacia treated with bone cement prosthesis and literature review

A case of metacarpal coloboma caused by Tumor-induced Osteomalacia treated with bone cement prosthesis and literature review | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report A case of metacarpal coloboma caused by Tumor-induced Osteomalacia treated with bone cement prosthesis and literature review Chuanhong Huang, Panfeng Dong, Yueping Chen, Shangtong Chen This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4048662/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Tumor-induced osteomalacia (TIO) is a rare disease known as hypophosphoric osteomalacia (HO). Phosphaturic mesenchymal tumor (PMT) is the pathological basis of most TIO patients and is caused by abnormal secretion of fibroblast growth factor 23 (Fibroblast Growth Factor 23, PMT). FGF-23 causes abnormal renal phosphate consumption and hypophosphatemia and is often subject to repeated examination and treatment before diagnosis, and the process of definitive diagnosis usually lasts several years. Most of these patients can be cured by surgical resection of the tumor, but the tumor causing this disease is often small in size, hidden in location, and difficult to detect. Multiple examination methods are needed to determine the location of the tumor, and cases of complete bone loss caused by direct tumor erosion have not been reported in the literature. We report a case in which the third metacarpal bone was lost due to direct tumor erosion, which was treated with prostheses made of bone cement. We also reviewed the relevant literature to explore the diagnosis of tumor-related osteomalacia and the treatment strategy used for this extremely rare case. Orthopedic Surgery Tumor-induced osteomalacia Bone defect Fibroblast growth factor 23 Diagnosis and treatment strategy Figures Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Introduction Tumor-induced osteomalacia (TIO) is a paraleoplastic syndrome caused by abnormal oversecretion of fibroblast growth factor 23 (FGF-23) by tumors. Although TIO is a rare disease worldwide and has been gradually recognized in recent years, it is difficult to diagnose because of the small number of cases and nonspecific symptoms commonly observed in TIO patients, and the accuracy of first-stage diagnosis is very low [1, 2]. In addition, the tumors that cause TIO tend to be small, slow-growing, and can occur anywhere in the body, making them difficult to detect and diagnosis even more difficult. Patients are often diagnosed with multiple fractures [3]. The author's team admitted a TIO patient in May 2021. The patient was characterized by a mass on the right hand, absence of the third metacarpal bone on the right hand, multiple rib fractures, pain in the chest and ribs, low back pain, pain in both lower limbs, and difficulty walking. After ineffective treatment at other hospitals, the patient was diagnosed and underwent surgical treatment at the hospital of the author's team. At the follow-up visit 28 months after the operation, the hand function of the patient was basically normal, the pain was eliminated everywhere, and the working ability was restored. Given that this type of case is very rare in TIO patients (direct tumor invasion, disappearance of the third metacarpal bone of the right hand), no similar case of the disappearance of the entire independent bone has been reported in the literature thus far, and the surgical treatment plan chosen by the author team is cost effective and feasible; therefore, we share this case with you. The surgical treatment plan and diagnosis and treatment strategy for these special type of TIO patients were also discussed. Case summary A 53-year-old male came to the hospital of the author's team in April 2021 due to "repeated pain in the chest, ribs and lower extremities for more than 4 years, aggravated for 5 months". In January 2017, the patient had a sudden bilateral pain in the chest and ribs during labor, which was paroxysmal and girdling. The pain increased when he turned over and pressed her chest and ribs and was partially relieved after he rested. When accompanied by pain in the waist and lower limbs, the pain was tolerable, and there was no other discomfort. In December 2017, he went to a local hospital (a Class II hospital) and was diagnosed with "1. Intercostal neuralgia; 2. Lumbar disc herniation", the symptoms were slightly relieved after treatment with nutritional agents, acupuncture, external application of traditional Chinese medicine, analgesia, etc. After treatment, the symptoms recurred, and as the disease progressed, pain in the chest and back, waist, lower limbs and thoracic deformity gradually appeared. Thus, the patient was repeatedly hospitalized in a local hospital for treatment, and the symptoms gradually developed into pain and limited movement in all the joints of the body. The pain is especially noticeable when you roll over in the morning. Two years after the onset of the disease, patients were diagnosed with "1” and had difficulty standing and walking, severe hunchback, needed to use a wheelchair, and then were treated at a provincial hospital (third class A hospital). Multiple thoracolumbar compression fractures; 2. Multiple rib fractures; 3. Severe osteoporosis; 4. "Lumbar and back fasciitis", the symptoms improved after treatment with nutritional nerves, anti-osteoporosis agents, analgesia, etc., but after discharge, the symptoms recurred. I went to the endocrinology department of the hospital where the author's team was located and was transferred to the department where the author's team was located for surgical treatment due to the tumor on the right hand and the disappearance of the right third metacarpal bone. During the course of the disease, he denied that his teeth were loose, that he had dry mouth and astringent eyes, that he had rampant teeth, and that he had Reynold's phenomenon. He also denied that he had taken adefovir diaxil, aluminum hydroxide and other drugs. In the past, he underwent surgical resection in 2006 due to hyperthyroidism, and he had suffered from "vitiligo" for 8 years without standard treatment. He was diagnosed with "lumbar disc herniation" at the local hospital in 2016 and had no history of coronary heart disease, diabetes, chronic respiratory disease, or infectious disease. The parents who were not close relatives were also married and denied a history of exposure to heavy metals, radiation, poisons, dust, or no similar history. Physical examination revealed the following: 160 cm height, 45 kg weight, body mass index (BMI) 17.58 kh/m², painful expression, passive posture, bent limp gait, only short-distance walking (less than 100 metermetres), extensive rib tenderness on both sides, indirect spinal percussion pain (+), cervical and brachial plexus examinations showing no abnormalities, pelvic compression separation test (-), positional dizziness test (-), Hoffman sign (-) on both sides, biceps tendon reflex left (++) right (++), triceps tendon reflex left (++) right (++), radial periosteum reflex left (++) right (++), and thoracic vertebra flexion to the left. Each thoracic spine paracanth tenderness, no percussion pain, lumbar physiological curvature straightening, each lumbar spine paracanth tenderness, no percussion pain, increased tension of lumbar muscles on both sides, straight leg elevation test left (-) right (40°), strengthening test left (-) right (+), Patrick sign left (+) right (++), knee reflex left (+++) right (+++), Achilles tendon reflex left side (+++) right side (+++), skin sensation of both upper limbs and lower limbs is normal, muscle strength of both upper limbs is grade 5, quadriceps muscle strength of left side is grade 4 and right side is grade 4, great toenail muscle strength of left side is grade 5 and right side is grade 5, Babinski sign of left side (-) right side (-), Gordon sign of left side (-) right side (-). A subcutaneous mass was found at the 3rd and 4th metacarpals on the dorsal side of the right hand; it was approximately 3 cm*5 cm in size and had no tenderness, a fixed position, no pushability, or a clear boundary. The 2nd to 5th fingers of the right hand were in a straight state of the metacarpal and phalangeal joints, with limited flexion and hyperextension function and basically normal thumb motion. Laboratory examination: Serum electrolytes at admission: calcium 1.92 mmol/L (reference range 2.11~2.52 mmol/L), phosphorus 0.26 mmol/L (reference range 0.85~1.51 mmol/L); Liver function: albumin 36 g/L (reference range of 40~55 g/L), Alkaline phosphatase (ALP) 338U/L (reference range of 45~125U/L), alanine aminotransferase 5U/L (reference range of 9~50U/L); Urine routine: pH 8.0 (reference range 5.5~7.0), urine glucose (++) (reference range (-)); Parathyroid Hormone (PTH) levels: 10.01pmol/L (reference range 1.27-9.33 pmol/L); FGF23 determination of 86.77 pg/ml (third party laboratory, ELISA method, reference range 3.62~44.57 pg/ml); Blood gas analysis: Free calcium (arterial blood) 1.00 mmol/L (reference range 1.15~1.29 mmol/L); Blood routine: lymphocyte percentage 18.3% (reference range 20%~50%), lymphocyte count 0.88*109/L (reference range 1.1*109/L~3.2*109/L), C-reactive protein 15.5 mg/L (reference range < 10 mg/L); Bone alkaline phosphatase 200U/L (reference range 0-150U/L); No abnormality was found in stool routine. There were no abnormalities in thyroid function, tumor markers or infection, and there were no obvious abnormalities in coagulation function. Ultrasound examination revealed a substantial mass with mixed echoes approximately 67×29×26 mm in size in the soft tissue 2.4 mm away from the skin. The shape was irregular, the boundary was clear, and the internal echo was uneven. CDFI: Relatively rich blood flow signals can be observed around the above mass, and short rod-like blood flow signals can be observed inside. The arterial spectrum was 16 mm/s for the PSV and 0.59 for the RI. No significant abnormalities were found in the residual thyroid gland. X-ray examination revealed that the third metacarpal bone of the right hand absorbs and destroys the soft tissue mass of ice, suggesting the possibility of benign lesions or benign neoplastic lesions. Metabolic bone disease (hyperparathyroidism)? (Figure 1) CT scan: 1. Osteoporosis, multiple thoracic vertebra chronic compression changes, multiple rib fractures, and thoracic vertebra degenerative changes; 2. Chronic inflammation of both lungs; 3. Intrahepatic bile duct stones or calcification foci in the right lobe of the liver were observed. (Figure 2) Magnetic resonance examination revealed the following: 1. Right hand third metacarpal bone destruction and soft tissue mass, giant cell tumor of bone? Endogenous chondroma? A hemangioma? 2. Bone marrow edema at the base of the second metacarpal bone of the right hand and multiple small cystic changes at the distal end of the fourth metacarpal bone of the right hand were observed. (Figure 3) Diagnosis: Patients with low-phosphorus osteomalacia (tumor related?) Treatment process: In the early stage of treatment, routine analgesia, calcitriol (0.25 μg oral anti-osteoporosis agent twice a day) and neutral phosphorus solution (73.1 g disodium phosphate + 6.4 g potassium dihydrogen phosphate + 1000 ml pure water) were given orally 20 ml each time, 4 times a day. After 7 days of treatment, electrolyte was monitored for 15 minutes after oral neutral phosphorus solution: Phosphorus 0.37 mmol/L blood calcium 1.89 mmol/L, night blood phosphorus 0.48 mmol/L, blood calcium 1.95 mmol/L; After 14 days of treatment, blood phosphorus was 0.32 mmol/L and blood calcium was 2.03 mmol/L after 15 minutes of oral neutral phosphorus solution. After 15 days of treatment, blood phosphorus was 0.35 mmol/L, and blood calcium was 2.13 mmol/L after 15 minutes of oral neutral phosphorus solution. On the 19th day of treatment, alkaline phosphatase was 346U/L, blood phosphorus was 0.50 mmol/L, blood calcium was 1.81 mmol/L, parathyroid hormone was 9.37pmol/L, FGF23 was 72.20 pg/ml. During the treatment, the pain symptoms of the patient fluctuated, and due to the unclear nature of the right-hand mass and the limited functional activity of the right hand, the patient was highly suspected to be the root cause of the hypophosphatemia. She was then transferred to the department of the author's team, after which she continued the treatment according to the above plan. After relevant preparations improved, surgery was performed on the 22nd day of treatment, during which the tumor was found to be between the extensor tendon and the flexor tendon. The capsule was complete, the appearance was gray and mixed with red, and the texture was tight, occupying the original position of the third metacarpal bone. There is only a small amount of bone under the articular surface of the metacarpal head in the third metacarpal bone (Figure 4); the middle direction is shifted to the proximal side, the transverse arch of the palm is seriously damaged, and the third metacarpal bone needs to be reconstructed. At that time, three reconstruction schemes were under consideration: (1) 3D printing was carried out with titanium metal as the material and the third metacarpal bone on the healthy side as the template; and (2) the third metacarpal bone was reconstructed after splicing and trimming of the bilateral iliac crest. ③ Bone cement was used to shape and simulate the reconstruction. From the perspective of patients' economic and living needs, after consultation with patients and their families, bone cement was ultimately selected for metacarpal reconstruction. The remaining space was measured after the tumor was cleared, and the residual bone and articular surface of the third metacarpal bone were removed during the operation. The middle value of the actual remaining space and the length of the healthy third metacarpal bone were taken (due to contracture, the prosthesis shape with the length of the healthy side was limited in movement). The mold was reconstructed using the cylinder of a 2 ml syringe. After the part connected to the needle was removed, the bone cement was injected into the cylinder, and the cavity was fully filled to form the bone cement prosthesis. After partial curing, the bone cement in the cylinder was pushed to the distal end using a syringe push rod so that part of the bone cement (approximately 1.5 cm in length) was exposed. Moreover, the curvature of the head of the push rod was used to form a concave surface on the proximal end of the bone cement prosthesis. The bone cement column exposed at the distal end was hand-shaped to make it convex. After the bone cement prosthesis was completely cured, the prosthesis was trimmed according to the shape of the articular surface of the distal end of the skull bone and the proximal end of the proximal phalanx of the third finger to match and form an artificial articular surface. The prosthesis was placed at the original third metacarpal bone, and the head, middle part and base of the prosthesis were bound to two loops using nylon thread. The tail of the thread was indwelled inside and outside, and the ligaments and other soft tissues were sutured to the prosthesis. The operation was closed after confirming that the patient’s position was basically stable. (Figure 5) Oral neutral phosphorus solution was stopped after surgery, and the blood phosphorus and calcium concentrations were 0.33 mmol/L and 2.06 mmol/L, respectively, on the first day after surgery (the 23rd day of treatment) and 0.65 mmol/L and 1.84 mmol/L, respectively, on the second day after surgery (the 24th day of treatment). On the 6th day after surgery (the 28th day of treatment), her blood phosphorus concentration was 1.02 mmol/L, her blood calcium concentration was 1.73 mmol/L, and her parathyroid hormone concentration was 8.44 pmol/L. FGF23: 46.74 pg/ml, alkaline phosphatase 322 U/L; on the 7th day after surgery (the 29th day after treatment), pathological examination revealed a spindle cell tumor, mild short spindle and small round cells in the background of a large mucous lake, abundant blood vessels in the interstitium, a small number of multinucleated cells in the lesion, and focal old bleeding and scattered calcification. Immunohistochemistry revealed the following: vimentin (+), CD34 (+), ERG (+), D2-40 (-), BcL-2 (+), CD99 (+), CD56 Part (+), CD68 part (+), P53 (-), NSE (-), Desmin (-), SMA (-), S-100 (-), and Ki-67 approximately 2%. Combined with HE morphology, immunohistochemistry, osteomalacia and hypophosphorus hypocalcemia, this case was more consistent with phosphatiuria mesenchymal tumor. (Figure 6) At this point, the patient was diagnosed with TIO on day 7 after surgery (day 29 of treatment). After the above treatment, the pain in other parts of the patient was relieved, and the mobility of the thoracolumbar spine and lower limb joints improved. The patient was discharged from the hospital and took medicine home for further treatment. After discharge, he was given 0.25 μg of alfa calcitol soft capsules orally three times a day, 1.5 g of calcium carbonate D3 tablets orally three times a day, and nonsteroidal painkillers. After discharge, through telephone follow-up, the patient's self-reported pain gradually improved, and by 6 months after discharge, the pain in all parts of the body had basically resolved. Similarly, the physiological curvature of the thoracolumbar spine had significantly recovered compared with that before surgery. Furthermore, the range of motion and function of the lower limb joints had significantly improved, her working ability was restored to approximately 80% of that before onset, and she could walk out of the wheelchair. Twenty-eight months after the operation, the author's team members visited the patient's home for follow-up. The patient's walking gait had basically returned to her state before the disease, most of her working ability had recovered, the range of motion of all joints in her body was basically normal, and there was no obvious pain everywhere in her body. Her height had partially recovered, and her right hand function had basically returned to normal. Flexion of the middle finger metacarpophalangeal joint was slightly limited only during fist movements (range of motion of the left middle finger metacarpophalangeal joint − 2° to 90° and the right middle finger metacarpophalangeal joint − 5° to 80°) (Figure 7). The results of X-ray examination showed no significant change after the operation (Figure 8). Blood and urine samples were collected and sent to a third-party laboratory: blood phosphorus 1.24 mmol/L (reference range 0.90~1.34 mmol/L), blood calcium 2.38 mmol/L (reference range 2.00~2.50 mmol/L), alkaline phosphatase 70IU/L (reference range 40~150IU/L); Parathyroid hormone 4.61pmol/L (reference range 1.27-9.33 pmol/L); Urine routine and urine gas chromatography were negative results, no urine phosphorus, urine amino acid urine sugar and so on. FGF23:3.88 pg/ml (ELISA method, reference range 3.62~44.57 pg/ml). The changes in blood phosphorus, blood calcium, PTH, ALP and FGF23 during the whole treatment process are shown in Figures 9-12. Literature review and discussion TIO is a type of hypophosphoric osteomalacia (HO) [4] and is a rare disease worldwide. Phosphaturic mesenchymal tumor (PMT) is the pathological basis of most TIO patients. Due to the overexpression of FGF23 caused by PMT, abnormal renal phosphate consumption and hypophosphate formation occur, followed by decreased bone mineralization, decreased bone density, microstructural destruction of bone trabeculae and insufficient bone formation [2]. The tumors causing TIO can be small, slow growing, and may lack specific manifestations in various parts of the body [5], which makes diagnosis quite difficult. The authors briefly summarize the diagnostic methods and procedures for TIO. TIO usually has no clear familial heritage. The incidence of TIO in the Japanese survey was approximately 0.04 cases/100,000 people [6], while the prevalence of TIO in the Danish survey was no more than 0.7 cases/100,000 people in the general population [7]. After a systematic review of 1725 TIO patients, Rendian et al. reported that the prevalence of COVID-19 in males was greater than that in females (55%: 45%), but the overall difference was not significant, and the onset of TIO before the age of 18 was very rare [5]. Other studies have shown that it takes 2.5 to 28 years from the onset of symptoms to the final diagnosis in TIO patients, who are often misdiagnosed with osteoarthritis, ankylosing spondylitis, lumbar disc herniation, hypoparathyroidism, osteoporosis, etc. [8-10]. The most common clinical manifestations are severe limb weakness, difficulty walking, and skeletal muscle pain with progressive aggravation, poor efficacy of conventional analgesics, shorter stature, kyphosis, etc., which are prone to fracture and tooth loss [9-11], and some patients present with Fanconi syndrome. However, tubular acidosis rarely occurs [4]. Like other types of hypophosphorus osteomalacia, TIO patients have significantly decreased blood phosphorus levels; normal or low blood calcium; elevated alkaline phosphatase (ALP) levels; normal or slightly elevated parathyroid hormone (PTH) levels; often decreased 1,25 (OH) 2D; normal or low 25(OH) D; and elevated FGF23 levels, which may be accompanied by positive urine amino acids, urine protein or urine sugar. Urinary phosphorus was elevated [12, 13]. However, in the case of hypophosphatemia, a normal level of FGF23 alone cannot rule out hypophosphatemic osteomalacia, which should be interpreted as "improperly normal" [14]. Other factors can also affect FGF23, such as treatment with phosphate and vitamin D preparations [14-16]. FGF23 levels are highly valuable in untreated patients [17]. At present, there is no unified standard for the diagnosis of FGF23, and the detection methods and standards used by various laboratories are inconsistent; therefore, the reference ranges provided by various laboratories can be used only as a reference [1]. In clinical practice, the application of FGF23 detection is limited to different degrees, so blood phosphorus, blood calcium and ALP levels are commonly monitored. Imaging examination usually reveals sparse and fuzzy bone in the form of ground glass, which is prone to bone deformity and may be accompanied by knee varus or valgus, an acetabulum concave pelvis trilobated, and double-concave deformation at the upper and lower edges of the vertebral body. Osteomalacia-related fractures are not uncommon, and false fractures are often observed; these fractures involve the presence of a transparent strip called the "Looser" zone, which is usually symmetrically distributed [9, 10, 18]. It has been reported in the literature that the most common tumor location in TIO is in the lower extremities (59.6%), followed by the head and neck (24.0%), trunk (9.4%) and upper extremities (6.9%) [19, 20]. Tumor localization is difficult in TIO diagnosis and treatment. Currently, bone scans and 18F-FDGPET/CT scans are commonly used for functional localization. 99TCM-octreotide SPECT/CT, 68Ga-DOTATATE PET/CT, 68Ga-DOTANOC PET/CT, 68Ga-DOTATOC PET/CT, 68Ga-DOTA SSTR PET/CT, etc. [1]. Although it is considered to be the least accurate among related technologies, 99TCM-octreotide SPECT/CT is still the most widely used test at present, and 68Ga-DOTA SSTR PET/CT has better sensitivity in detecting the root tumor of the TIO, which has become the first-line treatment [4, 21]. TIO should be distinguished from other diseases that can cause hypophosphatemia, such as Fanconi syndrome. The difference lies in the degree of renal involvement. In patients with TIO, the increase in renal phosphorus excretion is highly selective, while the kidneys only leak phosphorus, and the excretion of other substances is normal [22]; moreover, in patients with TIO, the increase in renal phosphorus excretion is nonselective. The excretion of sugars, amino acids, proteins, uric acid and bicarbonate increased. Patients with vitamin D deficiency or metabolic abnormalities are characterized mainly by hypocalcemia, and the decrease in blood phosphorus is less severe than the decrease in blood calcium. Patients with TIO are characterized by a significant decrease in blood phosphorus and an accompanying decrease in blood calcium, but it should be noted that some TIO patients may also have vitamin D deficiency. It should also be distinguished from other types of FGF23-mediated hypophospatemia, such as X-linked hypophospatemia (XLH). Autosomal dominant hypophosphatemic ricket (ADHR); autosomal recessive hypophosphatemic (ARHR); hereditary hypophosphatemic reckets with hypercalciuria (HHRH); XLH; ADHR; ARHR; and HHRH can be identified by molecular genetic detection. Since TIO is a type of HO, the diagnosis of HO should first be made according to clinical symptoms and corresponding tests and examinations, and then other HO types should be excluded to identify the lesions of TIO. The presence or absence of a family history can be considered a diagnostic preference, but the possibility of the presence of a new gene mutation should be considered. It should be noted that some HO patients also have vitamin D deficiency. (Figure 13) Complete resection of the tumor is the only definite treatment for TIO, which requires active identification of the responsible tumor lesion, and surgery should be the first choice once the location is clear [23]. The incidence of tumors in the upper extremities is relatively low (6.9%) [19, 20]. Although PMT tends to infiltrate soft tissue, penetrate into the bone trabecular space and produce a large amount of osteoid matrix, similar to osteosarcoma [24], the case of complete bone disappearance has not been reported in the literature. This patient was an adult with multiple bone and muscle pain events throughout the body. The procedure involved mainly the lower limbs and the thoracic and lumbar joints, with progressive worsening of the disease accompanied by multiple rib fractures, resulting in wheelchair mobility. Blood phosphorus and blood calcium were significantly reduced, and ALP was significantly increased, which was consistent with the symptoms of the disease. After tumor resection, blood phosphorus levels returned to normal on the 6th day after surgery without the continuous use of neutral phosphorus solution. This finding is consistent with the findings of other studies in which "blood phosphorus can recover by itself within 2 to 16 days after surgery" [8], "symptoms improve within a few days or weeks" [8, 25, 26], and symptoms are completely relieved 6 months after surgery, which is also consistent with the findings of other studies [27]. The tumors causing TIO are usually small (or even small) and often hidden in location, while in this case, the opposite is true. The tumor causing TIO was in the right hand and had a large volume. The tumor directly eroded the bone, resulting in the disappearance of the entire third metacarpal bone and the loss of most of the function of the right hand; thus, the tumor causing TIO could not be identified at the initial stage of treatment. Because patients live in mountainous areas and have poor economic conditions, it is crucial to find a solution that suits their specific situation. According to the current mainstream view, taking the third metacarpal bone of the left hand as a reference, 3D image printing with titanium metal and other materials is the most appropriate method. The prosthesis manufactured has a high similarity to the original bone and can almost perfectly replace the missing metacarpal bone. On the other hand, due to the contracture and adhesion of soft tissue in the patient's right hand due to long-term tumor occupation, the prosthesis cannot be directly manufactured according to the length of the healthy side; otherwise, "stucking” will occur. The specific length of the prosthesis needs to be measured during the operation after tumor dissection, so the prosthesis cannot be prepared in advance before surgery. The process of reconstructing the iliac crest bone segment is most consistent with human biological characteristics. However, if the third metacarpal bone is to be completely reconstructed, bilateral iliac crest bone extraction is required for splicing and fixation, and then joint surface trimming at both ends is needed. The patient was in poor physical condition after onset and had multiple spontaneous fractures and obvious osteoporosis. Bilateral iliac crest bone extraction was a relatively serious injury. In addition, after bilateral iliac crest splicing and fixation, the final shape of the trimmed bone often greatly differs from that of the original metacarpal bone, and the matching degree is not satisfactory. Both ends are cancellous bone sections that lack smoothness and wear resistance. For these reasons, bilateral iliac crest reconstruction has become an unsatisfactory option. After comprehensive consideration, the author team chose to use a 2 ml syringe as a mold and used bone cement to mold a substitute. The tools and materials required for this method are commonly used in orthopedic operating rooms; these materials are easy to obtain and simple to manipulate. A prosthesis made by using a bone cement column in accordance with the above method has a smooth surface, which will not cause obvious wear on tendons or articular surfaces and does not require the assistance of internal fixation. Only nylon threads need to be bound at both ends and in the middle, and the end of the thread is retained to suture the original joint capsule, ligament and muscle to the greatest extent possible. This ensures the stability, mobility and durability of the material. At the follow-up 28 months after surgery, the patient's right-hand functional activity was good (FIG. 7). Although there were still problems related to incomplete recovery of metacarpophalangeal joint motion and slight obstruction of movement (these problems were related to soft tissue adhesion and stiffness caused by long-term disease, and the prosthesis was not fully in line with the joint shape), it was very close to the normal side hand. Fully meet the needs of patients' life and work, and patients are very satisfied with this. According to the X-ray images (FIG. 8), the position of the bone cement prosthesis was stable, basically restoring the width and length of the palm. The proximal articular surface of the proximal phalanx of the middle finger of the right hand was automatically reshaped according to the shape of the distal end of the prosthesis during use, and the articular surface was more in line with the distal end of the prosthesis, which made the metacarpal and phalanx joints more stable and increased the stability of the prosthesis in the hand. The reconstruction of a wide range of bone defects caused by TIO via the use of bone cement molding prostheses has good operability, economy, stability and durability and can be performed in different regions and hospitals of different grades, providing a reference for the treatment of similar patients in the future. Declarations Acknowledgments The authors declare no competing interests. Funding Sources This paper obtained financial support from the Construction Project of Clinical Key Specialty (Trauma Surgery) in Guangxi Province. Author contributions The corresponding author, Professor Chen Yueping, diagnosed the patient's disease, designed the treatment plan and provided guidance to Huang Chuanhong and Dong Panfeng. Chen Shangtong collected and sorted the data. The first author, Huang Chuanhong, drafted the paper, and it was reviewed by Professor Chen Yueping. Patient consent This treatment plan was carried out with the consent of the patient, and the patient agreed to publication of the relevant treatment process. Statement of Nonduplication This manuscript has not been published or displayed in any form and will not be published by other journals in any media. Data Access Statement The data that support the findings of this study are available from the corresponding author, [Chen], upon reasonable request. Ethics statement Written informed consent was obtained from the participants prior to the publication of this case report. References Minisola S, Fukumoto S, Xia W, et al. 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Biosse DM, Coyac BR, Bardet C, et al., Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia. Journal of Dental Research. 96, 388-395(2017). Carpenter TO, Imel EA, Holm IA, et al. A clinician's guide to X-linked hypophosphatemia. Journal of Bone and Mineral Research. 26, 1381-1388(2011). Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 3, R13-30(2014). Yamazaki Y, Okazaki R, Shibata M, et al. Increased Circulatory Level of Biologically Active Full-Length FGF-23 in Patients with Hypophosphatemic Rickets/Osteomalacia. The Journal of Clinical Endocrinology & Metabolism. 87,957-4960(2002). Endo I, Fukumoto S, Ozono K, et al. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients. Bone. 42, 1235-1239(2008). Jonsson KB, Zahradnik R, Larsson T, et al. Fibroblast Growth Factor 23 in Oncogenic Osteomalacia and X-Linked Hypophosphatemia. n engl j med. 348, p. 1656-1663(2003). Carpenter TO, Insogna KL, Zhang, JH, et al. Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status. The Journal of Clinical Endocrinology & Metabolism. 95,E352-E357(2010). Chesher D, Oddy M, Darbar U, et al. Outcome of adult patients with X‐linked hypophosphatemia caused by PHEX gene mutations. Journal of Inherited Metabolic Disease. 41, 865-876(2018). Bosman A, Palermo A, Vanderhulst J, et al. Tumor-Induced Osteomalacia: A Systematic Clinical Review of 895 Cases. Calcified Tissue International. 111, 367-379(2022). Jiang Y, Hou G, Cheng W, Performance of 68Ga-DOTA-SST PET/CT, octreoscan SPECT/CT and 18F-FDG PET/CT in the detection of culprit tumors causing osteomalacia: a meta-analysis. Nuclear Medicine Communications. 41, 370-376(2010). Agrawal K, Padhy BM, Meher BR, et al. Diagnostic utility of Ga-68 DOTA-SSTR and F-18 FDG PET/CT in the detection of culprit tumors causing osteomalacia: a systematic review and meta-analysis. Nuclear. Medicine Communications. 42, 646-655(2021). Foreman JW. Fanconi Syndrome. Pediatric Clinics of North America. 66(1), p. 159-167(2019). Florenzano P, Hartley IR, Jimenez, M, et al. Tumor-Induced Osteomalacia. Calcified Tissue International. 108, 128-142(2021). Folpe AL, Phosphaturic mesenchymal tumors: A review and update. Seminars in Diagnostic Pathology. 36, 260-268(2019). Yu W, Jimenez M, Fu WZ, et al. Reports of 17 Chinese patients with tumor-induced osteomalacia[J]. Journal of Bone and Mineral Metabolism. 35, 298-307(2017). Corsi A, Ippolito E, Robey PG, et al. Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune–Albright syndrome. Skeletal Radiology. 46, 1435-1439(2017). Colangelo L, Pepe J, Nieddu L, et al. Long-term bone mineral density changes after surgical cure of patients with tumor-induced osteomalacia. Osteoporosis International. 31, 1383-1387(2020). Additional Declarations The authors declare no competing interests. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4048662","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":277511704,"identity":"85fd8877-cb12-4b0f-8966-1921d781cfb9","order_by":0,"name":"Chuanhong Huang","email":"","orcid":"https://orcid.org/0009-0005-6729-6285","institution":"","correspondingAuthor":false,"prefix":"","firstName":"Chuanhong","middleName":"","lastName":"Huang","suffix":""},{"id":277511860,"identity":"eee8dcd8-2207-44db-a35b-70bcbed06357","order_by":1,"name":"Panfeng Dong","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA8ElEQVRIiWNgGAWjYDCCAxCKH8xOqJCQ4ydWi2QDAwPjgwdnLIxBLKK1MBs+bKtI3EBIC9/x3sOvC2ruSPBLt1+TSJwnwbiBgfnhoxt4tEieOZdmPePYMwnJOWfKJBK3STCbM7AZG+fg0WJwI8fMmIftcB2QkQbSwmbZwMMmTVjLv8MS9mAtcyR4DA4Q1mL8mLftsISBRPphg8QGCQmCWiTPnDFjntl3WELiRg7jg4RjEgaSzQT8wne8x/hzwbfDEvwz0h8c/FFTV9/P3vzwMT4tQMAmDaF5DCA0M37lYCWfITT7A8JqR8EoGAWjYEQCAJ3aUUyymC6IAAAAAElFTkSuQmCC","orcid":"https://orcid.org/0000-0002-7273-6610","institution":"","correspondingAuthor":true,"prefix":"","firstName":"Panfeng","middleName":"","lastName":"Dong","suffix":""},{"id":277512014,"identity":"1c3f12e6-54d4-4150-9b3a-b29d9120446f","order_by":2,"name":"Yueping Chen","email":"","orcid":"","institution":"","correspondingAuthor":false,"prefix":"","firstName":"Yueping","middleName":"","lastName":"Chen","suffix":""},{"id":277512049,"identity":"9f2741b8-1756-4f7b-8f76-dffc076646dd","order_by":3,"name":"Shangtong Chen","email":"","orcid":"","institution":"","correspondingAuthor":false,"prefix":"","firstName":"Shangtong","middleName":"","lastName":"Chen","suffix":""}],"badges":[],"createdAt":"2024-03-08 19:25:05","currentVersionCode":1,"declarations":{"humanSubjects":true,"vertebrateSubjects":false,"conflictsOfInterestStatement":false,"humanSubjectEthicalGuidelines":true,"humanSubjectConsent":true,"humanSubjectClinicalTrial":true,"humanSubjectCaseReport":true,"vertebrateSubjectEthicalGuidelines":false},"doi":"10.21203/rs.3.rs-4048662/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-4048662/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":52447333,"identity":"4bf1f750-91e6-4637-94a4-11a30aa737c3","added_by":"auto","created_at":"2024-03-11 18:26:52","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":123967,"visible":true,"origin":"","legend":"\u003cp\u003eX-ray of the right hand before treatment; a anteroposterior, b oblique\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/307d58f7e0b6279f4258b5b8.png"},{"id":52447336,"identity":"68193702-5feb-435a-bd66-077259e0e97c","added_by":"auto","created_at":"2024-03-11 18:26:55","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":56837,"visible":true,"origin":"","legend":"\u003cp\u003ePreoperative chest CT image showing multiple rib fractures\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/a44ba1f11a89a05134596de6.png"},{"id":52447339,"identity":"64e6dcb8-57b8-4d83-a9dd-0595bb151f5c","added_by":"auto","created_at":"2024-03-11 18:26:56","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":261947,"visible":true,"origin":"","legend":"\u003cp\u003eRight-hand MRI before treatment; a to c indicate T1WI, and d to e indicate T2WI\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/2465a6fc38d3fda9e11805e5.png"},{"id":52447342,"identity":"89d2f083-4468-4695-9804-c4093f33520e","added_by":"auto","created_at":"2024-03-11 18:26:56","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":487350,"visible":true,"origin":"","legend":"\u003cp\u003eIntraoperative resection of the mass; yellow arrow: residual articular surface of the distal 3rd metacarpal bone; red arrow: part of the extensor tendon fiber of the middle finger tightly bound to the mass; blue arrow: part of the tumor was selected for incision.\u003c/p\u003e","description":"","filename":"4.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/924e3d1ca29c1d0edd6d7cdf.png"},{"id":52447344,"identity":"e49a65c8-1d35-4b77-b845-500a5fa78a16","added_by":"auto","created_at":"2024-03-11 18:26:56","extension":"png","order_by":5,"title":"Figure 5","display":"","copyAsset":false,"role":"figure","size":165040,"visible":true,"origin":"","legend":"\u003cp\u003ePostoperative X-ray of the right hand; a anteroposterior, b oblique\u003c/p\u003e","description":"","filename":"5.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/9328822b33e1e1372ef82590.png"},{"id":52447995,"identity":"7d01ab3e-24db-4b91-a2c4-5e6e1f153374","added_by":"auto","created_at":"2024-03-11 18:34:56","extension":"png","order_by":6,"title":"Figure 6","display":"","copyAsset":false,"role":"figure","size":357969,"visible":true,"origin":"","legend":"\u003cp\u003ePathological examination of the mass; a mirror is magnified 40 times larger, b mirror is magnified 100 times larger, c mirror is magnified 400 times larger; HE staining\u003c/p\u003e","description":"","filename":"6.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/ecce1f827bbc0cdda4998444.png"},{"id":52447337,"identity":"a761f764-e625-49c4-aeae-dfb83360eec0","added_by":"auto","created_at":"2024-03-11 18:26:55","extension":"png","order_by":7,"title":"Figure 7","display":"","copyAsset":false,"role":"figure","size":428108,"visible":true,"origin":"","legend":"\u003cp\u003eHand function 28 months after surgery. a~f: The flexion and extension kinetic energy of the right hand was very close to that of the left hand. b Due to postoperative functional exercise, the metacarpophalangeal joints of the right hand 2-5 fingers were not able to reach 0° when straightened. dThe flexion of the metacarpophalangeal joint to the middle finger of the right hand was slightly worse than that of the healthy side, approximately 80°.\u003c/p\u003e","description":"","filename":"7.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/82454836ff56592fb932c8c9.png"},{"id":52447341,"identity":"78c494c2-13b5-4dad-bc88-167ec63f2946","added_by":"auto","created_at":"2024-03-11 18:26:56","extension":"png","order_by":8,"title":"Figure 8","display":"","copyAsset":false,"role":"figure","size":263798,"visible":true,"origin":"","legend":"\u003cp\u003eX-ray examination of the right hand at 28 months after surgery; a, anteroposterior image; b, oblique image. The position of the bone cement column was stable, and the fit was good.\u003c/p\u003e","description":"","filename":"8.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/39579474f7ad06a9a393a20c.png"},{"id":52447346,"identity":"0805f5fc-b233-4c5b-a4e7-a943f6708dfc","added_by":"auto","created_at":"2024-03-11 18:26:57","extension":"png","order_by":9,"title":"Figure 9","display":"","copyAsset":false,"role":"figure","size":33628,"visible":true,"origin":"","legend":"\u003cp\u003eChanges in the serum phosphorus and calcium concentrations during the whole course of treatment. The patient underwent surgery on day 22, and her blood phosphorus concentration recovered quickly on day 2 after surgery and returned to normal on day 6 after surgery.\u003c/p\u003e","description":"","filename":"9.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/aeff9122c09b79f205829ba7.png"},{"id":52447334,"identity":"a1bb4c7d-1087-456d-a1e7-f1a6420c188f","added_by":"auto","created_at":"2024-03-11 18:26:55","extension":"png","order_by":10,"title":"Figure 10","display":"","copyAsset":false,"role":"figure","size":18661,"visible":true,"origin":"","legend":"\u003cp\u003eChanges in alkaline phosphatase (ALP) activity throughout treatment\u003c/p\u003e","description":"","filename":"10.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/e82a93967c2a0d32e40ccbee.png"},{"id":52447335,"identity":"c674ac15-4a89-4010-83c2-b4c3c41c37ac","added_by":"auto","created_at":"2024-03-11 18:26:55","extension":"png","order_by":11,"title":"Figure 11","display":"","copyAsset":false,"role":"figure","size":16366,"visible":true,"origin":"","legend":"\u003cp\u003eChanges in parathyroid hormone (PTH) levels throughout treatment\u003c/p\u003e","description":"","filename":"11.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/98dc6acb47b676d4792898ef.png"},{"id":52447340,"identity":"da0c094f-e303-4e01-a74e-700aa563ac90","added_by":"auto","created_at":"2024-03-11 18:26:56","extension":"png","order_by":12,"title":"Figure 12","display":"","copyAsset":false,"role":"figure","size":20269,"visible":true,"origin":"","legend":"\u003cp\u003eChanges in the value of fibroblast 23 (FGF) during treatment\u003c/p\u003e","description":"","filename":"12.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/bd3d359314de118ef953084b.png"},{"id":52447338,"identity":"e96465b7-bb62-4aa8-9ebe-14d66f56b74e","added_by":"auto","created_at":"2024-03-11 18:26:55","extension":"png","order_by":13,"title":"Figure 13","display":"","copyAsset":false,"role":"figure","size":144150,"visible":true,"origin":"","legend":"\u003cp\u003eA summary of the TIO diagnostic process. XLH: X-linked hypophospatemia; ADHR: autosomal dominant hypophosphatemic rash; ARHR: autosomal recessive hypophosphatemia; HHRH: hereditary hypophosphatemic recurrence with hypercalciuria.\u003c/p\u003e","description":"","filename":"13.png","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/32ca4807a4f3e8bb60f3cce5.png"},{"id":52447996,"identity":"db0283b0-334a-48fb-8ca0-006634347c72","added_by":"auto","created_at":"2024-03-11 18:35:02","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2892762,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4048662/v1/2b98c444-399a-4ee6-9dc4-6bd8f46fcf9b.pdf"}],"financialInterests":"The authors declare no competing interests.","formattedTitle":"\u003cp\u003eA case of metacarpal coloboma caused by Tumor-induced Osteomalacia treated with bone cement prosthesis and literature review\u003c/p\u003e","fulltext":[{"header":"Introduction","content":"\u003cp\u003eTumor-induced osteomalacia (TIO) is a paraleoplastic syndrome caused by abnormal oversecretion of fibroblast growth factor 23 (FGF-23) by tumors. Although TIO is a rare disease worldwide and has been gradually recognized in recent years, it is difficult to diagnose because of the small number of cases and nonspecific symptoms commonly observed in TIO patients, and the accuracy of first-stage diagnosis is very low [1, 2]. In addition, the tumors that cause TIO tend to be small, slow-growing, and can occur anywhere in the body, making them difficult to detect and diagnosis even more difficult. Patients are often diagnosed with multiple fractures [3].\u003c/p\u003e\n\u003cp\u003eThe author's team admitted a TIO patient in May 2021. The patient was characterized by a mass on the right hand, absence of the third metacarpal bone on the right hand, multiple rib fractures, pain in the chest and ribs, low back pain, pain in both lower limbs, and difficulty walking. After ineffective treatment at other hospitals, the patient was diagnosed and underwent surgical treatment at the hospital of the author's team. At the follow-up visit 28 months after the operation, the hand function of the patient was basically normal, the pain was eliminated everywhere, and the working ability was restored. Given that this type of case is very rare in TIO patients (direct tumor invasion, disappearance of the third metacarpal bone of the right hand), no similar case of the disappearance of the entire independent bone has been reported in the literature thus far, and the surgical treatment plan chosen by the author team is cost effective and feasible; therefore, we share this case with you. The surgical treatment plan and diagnosis and treatment strategy for these special type of TIO patients were also discussed.\u003c/p\u003e"},{"header":"Case summary","content":"\u003cp\u003eA 53-year-old male came to the hospital of the author\u0026apos;s team in April 2021 due to \u0026quot;repeated pain in the chest, ribs and lower extremities for more than 4 years, aggravated for 5 months\u0026quot;. In January 2017, the patient had a sudden bilateral pain in the chest and ribs during labor, which was paroxysmal and girdling. The pain increased when he turned over and pressed her chest and ribs and was partially relieved after he rested. When accompanied by pain in the waist and lower limbs, the pain was tolerable, and there was no other discomfort. In December 2017, he went to a local hospital (a Class II hospital) and was diagnosed with \u0026quot;1. Intercostal neuralgia; 2. Lumbar disc herniation\u0026quot;, the symptoms were slightly relieved after treatment with nutritional agents, acupuncture, external application of traditional Chinese medicine, analgesia, etc. After treatment, the symptoms recurred, and as the disease progressed, pain in the chest and back, waist, lower limbs and thoracic deformity gradually appeared. Thus, the patient was repeatedly hospitalized in a local hospital for treatment, and the symptoms gradually developed into pain and limited movement in all the joints of the body. The pain is especially noticeable when you roll over in the morning. Two years after the onset of the disease, patients were diagnosed with \u0026quot;1\u0026rdquo; and had difficulty standing and walking, severe hunchback, needed to use a wheelchair, and then were treated at a provincial hospital (third class A hospital). Multiple thoracolumbar compression fractures; 2. Multiple rib fractures; 3. Severe osteoporosis; 4. \u0026quot;Lumbar and back fasciitis\u0026quot;, the symptoms improved after treatment with nutritional nerves, anti-osteoporosis agents, analgesia, etc., but after discharge, the symptoms recurred. I went to the endocrinology department of the hospital where the author\u0026apos;s team was located and was transferred to the department where the author\u0026apos;s team was located for surgical treatment due to the tumor on the right hand and the disappearance of the right third metacarpal bone.\u003c/p\u003e\n\u003cp\u003eDuring the course of the disease, he denied that his teeth were loose, that he had dry mouth and astringent eyes, that he had rampant teeth, and that he had Reynold\u0026apos;s phenomenon. He also denied that he had taken adefovir diaxil, aluminum hydroxide and other drugs. In the past, he underwent surgical resection in 2006 due to hyperthyroidism, and he had suffered from \u0026quot;vitiligo\u0026quot; for 8 years without standard treatment. He was diagnosed with \u0026quot;lumbar disc herniation\u0026quot; at the local hospital in 2016 and had no history of coronary heart disease, diabetes, chronic respiratory disease, or infectious disease. The parents who were not close relatives were also married and denied a history of exposure to heavy metals, radiation, poisons, dust, or no similar history.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003ePhysical examination\u003c/strong\u003e revealed the following: 160 cm height, 45 kg weight, body mass index (BMI) 17.58 kh/m\u0026sup2;, painful expression, passive posture, bent limp gait, only short-distance walking (less than 100 metermetres), extensive rib tenderness on both sides, indirect spinal percussion pain (+), cervical and brachial plexus examinations showing no abnormalities, pelvic compression separation test (-), positional dizziness test (-), Hoffman sign (-) on both sides, biceps tendon reflex left (++) right (++), triceps tendon reflex left (++) right (++), radial periosteum reflex left (++) right (++), and thoracic vertebra flexion to the left. Each thoracic spine paracanth tenderness, no percussion pain, lumbar physiological curvature straightening, each lumbar spine paracanth tenderness, no percussion pain, increased tension of lumbar muscles on both sides, straight leg elevation test left (-) right (40\u0026deg;), strengthening test left (-) right (+), Patrick sign left (+) right (++), knee reflex left (+++) right (+++), Achilles tendon reflex left side (+++) right side (+++), skin sensation of both upper limbs and lower limbs is normal, muscle strength of both upper limbs is grade 5, quadriceps muscle strength of left side is grade 4 and right side is grade 4, great toenail muscle strength of left side is grade 5 and right side is grade 5, Babinski sign of left side (-) right side (-), Gordon sign of left side (-) right side (-). A subcutaneous mass was found at the 3rd and 4th metacarpals on the dorsal side of the right hand; it was approximately 3 cm*5 cm in size and had no tenderness, a fixed position, no pushability, or a clear boundary. The 2nd to 5th fingers of the right hand were in a straight state of the metacarpal and phalangeal joints, with limited flexion and hyperextension function and basically normal thumb motion.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eLaboratory examination:\u0026nbsp;\u003c/strong\u003eSerum electrolytes at admission: calcium 1.92 mmol/L (reference range 2.11~2.52 mmol/L), phosphorus 0.26 mmol/L (reference range 0.85~1.51 mmol/L); Liver function: albumin 36 g/L (reference range of 40~55 g/L), Alkaline phosphatase (ALP) 338U/L (reference range of 45~125U/L), alanine aminotransferase 5U/L (reference range of 9~50U/L); Urine routine: pH 8.0 (reference range 5.5~7.0), urine glucose (++) (reference range (-)); Parathyroid Hormone (PTH) levels: 10.01pmol/L (reference range 1.27-9.33 pmol/L); FGF23 determination of 86.77 pg/ml (third party laboratory, ELISA method, reference range 3.62~44.57 pg/ml); Blood gas analysis: Free calcium (arterial blood) 1.00 mmol/L (reference range 1.15~1.29 mmol/L); Blood routine: lymphocyte percentage 18.3% (reference range 20%~50%), lymphocyte count 0.88*109/L (reference range 1.1*109/L~3.2*109/L), C-reactive protein 15.5 mg/L (reference range \u0026lt; 10 mg/L); Bone alkaline phosphatase 200U/L (reference range 0-150U/L); No abnormality was found in stool routine. There were no abnormalities in thyroid function, tumor markers or infection, and there were no obvious abnormalities in coagulation function.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eUltrasound examination\u003c/strong\u003e revealed a substantial mass with mixed echoes approximately 67\u0026times;29\u0026times;26 mm in size in the soft tissue 2.4 mm away from the skin. The shape was irregular, the boundary was clear, and the internal echo was uneven. CDFI: Relatively rich blood flow signals can be observed around the above mass, and short rod-like blood flow signals can be observed inside. The arterial spectrum was 16 mm/s for the PSV and 0.59 for the RI. No significant abnormalities were found in the residual thyroid gland.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eX-ray examination\u003c/strong\u003e revealed that the third metacarpal bone of the right hand absorbs and destroys the soft tissue mass of ice, suggesting the possibility of benign lesions or benign neoplastic lesions. Metabolic bone disease (hyperparathyroidism)? (Figure 1)\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCT scan:\u0026nbsp;\u003c/strong\u003e1. Osteoporosis, multiple thoracic vertebra chronic compression changes, multiple rib fractures, and thoracic vertebra degenerative changes; 2. Chronic inflammation of both lungs; 3. Intrahepatic bile duct stones or calcification foci in the right lobe of the liver were observed. (Figure 2)\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMagnetic resonance examination revealed the following:\u0026nbsp;\u003c/strong\u003e1. Right hand third metacarpal bone destruction and soft tissue mass, giant cell tumor of bone? Endogenous chondroma? A hemangioma? 2. Bone marrow edema at the base of the second metacarpal bone of the right hand and multiple small cystic changes at the distal end of the fourth metacarpal bone of the right hand were observed. (Figure 3)\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDiagnosis:\u003c/strong\u003e Patients with low-phosphorus osteomalacia (tumor related?)\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eTreatment process:\u003c/strong\u003e In the early stage of treatment, routine analgesia, calcitriol (0.25 \u0026mu;g oral anti-osteoporosis agent twice a day) and neutral phosphorus solution (73.1 g disodium phosphate + 6.4 g potassium dihydrogen phosphate + 1000 ml pure water) were given orally 20 ml each time, 4 times a day. After 7 days of treatment, electrolyte was monitored for 15 minutes after oral neutral phosphorus solution: Phosphorus 0.37 mmol/L blood calcium 1.89 mmol/L, night blood phosphorus 0.48 mmol/L, blood calcium 1.95 mmol/L; After 14 days of treatment, blood phosphorus was 0.32 mmol/L and blood calcium was 2.03 mmol/L after 15 minutes of oral neutral phosphorus solution. After 15 days of treatment, blood phosphorus was 0.35 mmol/L, and blood calcium was 2.13 mmol/L after 15 minutes of oral neutral phosphorus solution. On the 19th day of treatment, alkaline phosphatase was 346U/L, blood phosphorus was 0.50 mmol/L, blood calcium was 1.81 mmol/L, parathyroid hormone was 9.37pmol/L, FGF23 was 72.20 pg/ml. During the treatment, the pain symptoms of the patient fluctuated, and due to the unclear nature of the right-hand mass and the limited functional activity of the right hand, the patient was highly suspected to be the root cause of the hypophosphatemia. She was then transferred to the department of the author\u0026apos;s team, after which she continued the treatment according to the above plan. After relevant preparations improved, surgery was performed on the 22nd day of treatment, during which the tumor was found to be between the extensor tendon and the flexor tendon. The capsule was complete, the appearance was gray and mixed with red, and the texture was tight, occupying the original position of the third metacarpal bone. There is only a small amount of bone under the articular surface of the metacarpal head in the third metacarpal bone (Figure 4); the middle direction is shifted to the proximal side, the transverse arch of the palm is seriously damaged, and the third metacarpal bone needs to be reconstructed.\u003c/p\u003e\n\u003cp\u003eAt that time, three reconstruction schemes were under consideration: (1) 3D printing was carried out with titanium metal as the material and the third metacarpal bone on the healthy side as the template; and (2) the third metacarpal bone was reconstructed after splicing and trimming of the bilateral iliac crest. ③ Bone cement was used to shape and simulate the reconstruction. From the perspective of patients\u0026apos; economic and living needs, after consultation with patients and their families, bone cement was ultimately selected for metacarpal reconstruction. The remaining space was measured after the tumor was cleared, and the residual bone and articular surface of the third metacarpal bone were removed during the operation. The middle value of the actual remaining space and the length of the healthy third metacarpal bone were taken (due to contracture, the prosthesis shape with the length of the healthy side was limited in movement). The mold was reconstructed using the cylinder of a 2 ml syringe. After the part connected to the needle was removed, the bone cement was injected into the cylinder, and the cavity was fully filled to form the bone cement prosthesis. After partial curing, the bone cement in the cylinder was pushed to the distal end using a syringe push rod so that part of the bone cement (approximately 1.5 cm in length) was exposed. Moreover, the curvature of the head of the push rod was used to form a concave surface on the proximal end of the bone cement prosthesis. The bone cement column exposed at the distal end was hand-shaped to make it convex. After the bone cement prosthesis was completely cured, the prosthesis was trimmed according to the shape of the articular surface of the distal end of the skull bone and the proximal end of the proximal phalanx of the third finger to match and form an artificial articular surface. The prosthesis was placed at the original third metacarpal bone, and the head, middle part and base of the prosthesis were bound to two loops using nylon thread. The tail of the thread was indwelled inside and outside, and the ligaments and other soft tissues were sutured to the prosthesis. The operation was closed after confirming that the patient\u0026rsquo;s position was basically stable. (Figure 5)\u003c/p\u003e\n\u003cp\u003eOral neutral phosphorus solution was stopped after surgery, and the blood phosphorus and calcium concentrations were 0.33 mmol/L and 2.06 mmol/L, respectively, on the first day after surgery (the 23rd day of treatment) and 0.65 mmol/L and 1.84 mmol/L, respectively, on the second day after surgery (the 24th day of treatment). On the 6th day after surgery (the 28th day of treatment), her blood phosphorus concentration was 1.02 mmol/L, her blood calcium concentration was 1.73 mmol/L, and her parathyroid hormone concentration was 8.44 pmol/L. FGF23: 46.74 pg/ml, alkaline phosphatase 322 U/L; on the 7th day after surgery (the 29th day after treatment), pathological examination revealed a spindle cell tumor, mild short spindle and small round cells in the background of a large mucous lake, abundant blood vessels in the interstitium, a small number of multinucleated cells in the lesion, and focal old bleeding and scattered calcification. Immunohistochemistry revealed the following: vimentin (+), CD34 (+), ERG (+), D2-40 (-), BcL-2 (+), CD99 (+), CD56 Part (+), CD68 part (+), P53 (-), NSE (-), Desmin (-), SMA (-), S-100 (-), and Ki-67 approximately 2%. Combined with HE morphology, immunohistochemistry, osteomalacia and hypophosphorus hypocalcemia, this case was more consistent with phosphatiuria mesenchymal tumor. (Figure 6)\u003c/p\u003e\n\u003cp\u003eAt this point, the patient was diagnosed with TIO on day 7 after surgery (day 29 of treatment).\u003c/p\u003e\n\u003cp\u003eAfter the above treatment, the pain in other parts of the patient was relieved, and the mobility of the thoracolumbar spine and lower limb joints improved. The patient was discharged from the hospital and took medicine home for further treatment. After discharge, he was given 0.25 \u0026mu;g of alfa calcitol soft capsules orally three times a day, 1.5 g of calcium carbonate D3 tablets orally three times a day, and nonsteroidal painkillers. After discharge, through telephone follow-up, the patient\u0026apos;s self-reported pain gradually improved, and by 6 months after discharge, the pain in all parts of the body had basically resolved. Similarly, the physiological curvature of the thoracolumbar spine had significantly recovered compared with that before surgery. Furthermore, the range of motion and function of the lower limb joints had significantly improved, her working ability was restored to approximately 80% of that before onset, and she could walk out of the wheelchair.\u003c/p\u003e\n\u003cp\u003eTwenty-eight months after the operation, the author\u0026apos;s team members visited the patient\u0026apos;s home for follow-up. The patient\u0026apos;s walking gait had basically returned to her state before the disease, most of her working ability had recovered, the range of motion of all joints in her body was basically normal, and there was no obvious pain everywhere in her body. Her height had partially recovered, and her right hand function had basically returned to normal. Flexion of the middle finger metacarpophalangeal joint was slightly limited only during fist movements (range of motion of the left middle finger metacarpophalangeal joint \u0026minus; 2\u0026deg; to 90\u0026deg; and the right middle finger metacarpophalangeal joint \u0026minus; 5\u0026deg; to 80\u0026deg;) (Figure 7). The results of X-ray examination showed no significant change after the operation (Figure 8). Blood and urine samples were collected and sent to a third-party laboratory: blood phosphorus 1.24 mmol/L (reference range 0.90~1.34 mmol/L), blood calcium 2.38 mmol/L (reference range 2.00~2.50 mmol/L), alkaline phosphatase 70IU/L (reference range 40~150IU/L); Parathyroid hormone 4.61pmol/L (reference range 1.27-9.33 pmol/L); Urine routine and urine gas chromatography were negative results, no urine phosphorus, urine amino acid urine sugar and so on. FGF23:3.88 pg/ml (ELISA method, reference range 3.62~44.57 pg/ml). The changes in blood phosphorus, blood calcium, PTH, ALP and FGF23 during the whole treatment process are shown in Figures 9-12.\u003c/p\u003e"},{"header":"Literature review and discussion","content":"\u003cp\u003eTIO is a type of hypophosphoric osteomalacia (HO) [4] and is a rare disease worldwide. Phosphaturic mesenchymal tumor (PMT) is the pathological basis of most TIO patients. Due to the overexpression of FGF23 caused by PMT, abnormal renal phosphate consumption and hypophosphate formation occur, followed by decreased bone mineralization, decreased bone density, microstructural destruction of bone trabeculae and insufficient bone formation [2]. The tumors causing TIO can be small, slow growing, and may lack specific manifestations in various parts of the body [5], which makes diagnosis quite difficult. The authors briefly summarize the diagnostic methods and procedures for TIO.\u003c/p\u003e\n\u003cp\u003eTIO usually has no clear familial heritage. The incidence of TIO in the Japanese survey was approximately 0.04 cases/100,000 people [6], while the prevalence of TIO in the Danish survey was no more than 0.7 cases/100,000 people in the general population [7]. After a systematic review of 1725 TIO patients, Rendian et al. reported that the prevalence of COVID-19 in males was greater than that in females (55%: 45%), but the overall difference was not significant, and the onset of TIO before the age of 18 was very rare [5]. Other studies have shown that it takes 2.5 to 28 years from the onset of symptoms to the final diagnosis in TIO patients, who are often misdiagnosed with osteoarthritis, ankylosing spondylitis, lumbar disc herniation, hypoparathyroidism, osteoporosis, etc. [8-10].\u003c/p\u003e\n\u003cp\u003eThe most common clinical manifestations are severe limb weakness, difficulty walking, and skeletal muscle pain with progressive aggravation, poor efficacy of conventional analgesics, shorter stature, kyphosis, etc., which are prone to fracture and tooth loss [9-11], and some patients present with Fanconi syndrome. However, tubular acidosis rarely occurs [4].\u003c/p\u003e\n\u003cp\u003eLike other types of hypophosphorus osteomalacia, TIO patients have significantly decreased blood phosphorus levels; normal or low blood calcium; elevated alkaline phosphatase (ALP) levels; normal or slightly elevated parathyroid hormone (PTH) levels; often decreased 1,25 (OH) 2D; normal or low 25(OH) D; and elevated FGF23 levels, which may be accompanied by positive urine amino acids, urine protein or urine sugar. Urinary phosphorus was elevated [12, 13]. However, in the case of hypophosphatemia, a normal level of FGF23 alone cannot rule out hypophosphatemic osteomalacia, which should be interpreted as \u0026quot;improperly normal\u0026quot; [14]. Other factors can also affect FGF23, such as treatment with phosphate and vitamin D preparations [14-16]. FGF23 levels are highly valuable in untreated patients [17]. At present, there is no unified standard for the diagnosis of FGF23, and the detection methods and standards used by various laboratories are inconsistent; therefore, the reference ranges provided by various laboratories can be used only as a reference [1]. In clinical practice, the application of FGF23 detection is limited to different degrees, so blood phosphorus, blood calcium and ALP levels are commonly monitored.\u003c/p\u003e\n\u003cp\u003eImaging examination usually reveals sparse and fuzzy bone in the form of ground glass, which is prone to bone deformity and may be accompanied by knee varus or valgus, an acetabulum concave pelvis trilobated, and double-concave deformation at the upper and lower edges of the vertebral body. Osteomalacia-related fractures are not uncommon, and false fractures are often observed; these fractures involve the presence of a transparent strip called the \u0026quot;Looser\u0026quot; zone, which is usually symmetrically distributed [9, 10, 18].\u003c/p\u003e\n\u003cp\u003eIt has been reported in the literature that the most common tumor location in TIO is in the lower extremities (59.6%), followed by the head and neck (24.0%), trunk (9.4%) and upper extremities (6.9%) [19, 20]. Tumor localization is difficult in TIO diagnosis and treatment. Currently, bone scans and 18F-FDGPET/CT scans are commonly used for functional localization. 99TCM-octreotide SPECT/CT, 68Ga-DOTATATE PET/CT, 68Ga-DOTANOC PET/CT, 68Ga-DOTATOC PET/CT, 68Ga-DOTA SSTR PET/CT, etc. [1]. Although it is considered to be the least accurate among related technologies, 99TCM-octreotide SPECT/CT is still the most widely used test at present, and 68Ga-DOTA SSTR PET/CT has better sensitivity in detecting the root tumor of the TIO, which has become the first-line treatment [4, 21].\u003c/p\u003e\n\u003cp\u003eTIO should be distinguished from other diseases that can cause hypophosphatemia, such as Fanconi syndrome. The difference lies in the degree of renal involvement. In patients with TIO, the increase in renal phosphorus excretion is highly selective, while the kidneys only leak phosphorus, and the excretion of other substances is normal [22]; moreover, in patients with TIO, the increase in renal phosphorus excretion is nonselective. The excretion of sugars, amino acids, proteins, uric acid and bicarbonate increased. Patients with vitamin D deficiency or metabolic abnormalities are characterized mainly by hypocalcemia, and the decrease in blood phosphorus is less severe than the decrease in blood calcium. Patients with TIO are characterized by a significant decrease in blood phosphorus and an accompanying decrease in blood calcium, but it should be noted that some TIO patients may also have vitamin D deficiency. It should also be distinguished from other types of FGF23-mediated hypophospatemia, such as X-linked hypophospatemia (XLH). Autosomal dominant hypophosphatemic ricket (ADHR); autosomal recessive hypophosphatemic (ARHR); hereditary hypophosphatemic reckets with hypercalciuria (HHRH); XLH; ADHR; ARHR; and HHRH can be identified by molecular genetic detection.\u003c/p\u003e\n\u003cp\u003eSince TIO is a type of HO, the diagnosis of HO should first be made according to clinical symptoms and corresponding tests and examinations, and then other HO types should be excluded to identify the lesions of TIO. The presence or absence of a family history can be considered a diagnostic preference, but the possibility of the presence of a new gene mutation should be considered. It should be noted that some HO patients also have vitamin D deficiency. (Figure 13)\u003c/p\u003e\n\u003cp\u003eComplete resection of the tumor is the only definite treatment for TIO, which requires active identification of the responsible tumor lesion, and surgery should be the first choice once the location is clear [23]. The incidence of tumors in the upper extremities is relatively low (6.9%) [19, 20]. Although PMT tends to infiltrate soft tissue, penetrate into the bone trabecular space and produce a large amount of osteoid matrix, similar to osteosarcoma [24], the case of complete bone disappearance has not been reported in the literature. This patient was an adult with multiple bone and muscle pain events throughout the body. The procedure involved mainly the lower limbs and the thoracic and lumbar joints, with progressive worsening of the disease accompanied by multiple rib fractures, resulting in wheelchair mobility. Blood phosphorus and blood calcium were significantly reduced, and ALP was significantly increased, which was consistent with the symptoms of the disease. After tumor resection, blood phosphorus levels returned to normal on the 6th day after surgery without the continuous use of neutral phosphorus solution. This finding is consistent with the findings of other studies in which \u0026quot;blood phosphorus can recover by itself within 2 to 16 days after surgery\u0026quot; [8], \u0026quot;symptoms improve within a few days or weeks\u0026quot; [8, 25, 26], and symptoms are completely relieved 6 months after surgery, which is also consistent with the findings of other studies [27]. The tumors causing TIO are usually small (or even small) and often hidden in location, while in this case, the opposite is true. The tumor causing TIO was in the right hand and had a large volume. The tumor directly eroded the bone, resulting in the disappearance of the entire third metacarpal bone and the loss of most of the function of the right hand; thus, the tumor causing TIO could not be identified at the initial stage of treatment. Because patients live in mountainous areas and have poor economic conditions, it is crucial to find a solution that suits their specific situation. According to the current mainstream view, taking the third metacarpal bone of the left hand as a reference, 3D image printing with titanium metal and other materials is the most appropriate method. The prosthesis manufactured has a high similarity to the original bone and can almost perfectly replace the missing metacarpal bone. On the other hand, due to the contracture and adhesion of soft tissue in the patient\u0026apos;s right hand due to long-term tumor occupation, the prosthesis cannot be directly manufactured according to the length of the healthy side; otherwise, \u0026quot;stucking\u0026rdquo; will occur. The specific length of the prosthesis needs to be measured during the operation after tumor dissection, so the prosthesis cannot be prepared in advance before surgery. The process of reconstructing the iliac crest bone segment is most consistent with human biological characteristics. However, if the third metacarpal bone is to be completely reconstructed, bilateral iliac crest bone extraction is required for splicing and fixation, and then joint surface trimming at both ends is needed. The patient was in poor physical condition after onset and had multiple spontaneous fractures and obvious osteoporosis. Bilateral iliac crest bone extraction was a relatively serious injury. In addition, after bilateral iliac crest splicing and fixation, the final shape of the trimmed bone often greatly differs from that of the original metacarpal bone, and the matching degree is not satisfactory. Both ends are cancellous bone sections that lack smoothness and wear resistance. For these reasons, bilateral iliac crest reconstruction has become an unsatisfactory option. After comprehensive consideration, the author team chose to use a 2 ml syringe as a mold and used bone cement to mold a substitute. The tools and materials required for this method are commonly used in orthopedic operating rooms; these materials are easy to obtain and simple to manipulate. A prosthesis made by using a bone cement column in accordance with the above method has a smooth surface, which will not cause obvious wear on tendons or articular surfaces and does not require the assistance of internal fixation. Only nylon threads need to be bound at both ends and in the middle, and the end of the thread is retained to suture the original joint capsule, ligament and muscle to the greatest extent possible. This ensures the stability, mobility and durability of the material. At the follow-up 28 months after surgery, the patient\u0026apos;s right-hand functional activity was good (FIG. 7). Although there were still problems related to incomplete recovery of metacarpophalangeal joint motion and slight obstruction of movement (these problems were related to soft tissue adhesion and stiffness caused by long-term disease, and the prosthesis was not fully in line with the joint shape), it was very close to the normal side hand. Fully meet the needs of patients\u0026apos; life and work, and patients are very satisfied with this. According to the X-ray images (FIG. 8), the position of the bone cement prosthesis was stable, basically restoring the width and length of the palm. The proximal articular surface of the proximal phalanx of the middle finger of the right hand was automatically reshaped according to the shape of the distal end of the prosthesis during use, and the articular surface was more in line with the distal end of the prosthesis, which made the metacarpal and phalanx joints more stable and increased the stability of the prosthesis in the hand. The reconstruction of a wide range of bone defects caused by TIO via the use of bone cement molding prostheses has good operability, economy, stability and durability and can be performed in different regions and hospitals of different grades, providing a reference for the treatment of similar patients in the future.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding Sources\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis paper obtained financial support from the Construction Project of Clinical Key Specialty (Trauma Surgery) in Guangxi Province.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe corresponding author, Professor Chen Yueping, diagnosed the patient's disease, designed the treatment plan and provided guidance to Huang Chuanhong and Dong Panfeng. Chen Shangtong collected and sorted the data. The first author, Huang Chuanhong, drafted the paper, and it was reviewed by Professor Chen Yueping.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003ePatient consent\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis treatment plan was carried out with the consent of the patient, and the patient agreed to publication of the relevant treatment process.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eStatement of Nonduplication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis manuscript has not been published or displayed in any form and will not be published by other journals in any media.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData Access Statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe data that support the findings of this study are available from the corresponding author, [Chen], upon reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWritten informed consent was obtained from the participants prior to the publication of this case report.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eMinisola S, Fukumoto S, Xia W, et al. 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Pediatric Clinics of North America. 66(1), p. 159-167(2019).\u003c/li\u003e\n\u003cli\u003eFlorenzano P, Hartley IR, Jimenez, M, et al. Tumor-Induced Osteomalacia. Calcified Tissue International. 108, 128-142(2021).\u003c/li\u003e\n\u003cli\u003eFolpe AL, Phosphaturic mesenchymal tumors: A review and update. Seminars in Diagnostic Pathology. 36, 260-268(2019).\u003c/li\u003e\n\u003cli\u003eYu W, Jimenez M, Fu WZ, et al. Reports of 17 Chinese patients with tumor-induced osteomalacia[J]. Journal of Bone and Mineral Metabolism. 35, 298-307(2017).\u003c/li\u003e\n\u003cli\u003eCorsi A, Ippolito E, Robey PG, et al. Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune\u0026ndash;Albright syndrome. Skeletal Radiology. 46, 1435-1439(2017).\u003c/li\u003e\n\u003cli\u003eColangelo L, Pepe J, Nieddu L, et al. Long-term bone mineral density changes after surgical cure of patients with tumor-induced osteomalacia. Osteoporosis International. 31, 1383-1387(2020).\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Tumor-induced osteomalacia, Bone defect, Fibroblast growth factor 23, Diagnosis and treatment strategy","lastPublishedDoi":"10.21203/rs.3.rs-4048662/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4048662/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eTumor-induced osteomalacia (TIO) is a rare disease known as hypophosphoric osteomalacia (HO). Phosphaturic mesenchymal tumor (PMT) is the pathological basis of most TIO patients and is caused by abnormal secretion of fibroblast growth factor 23 (Fibroblast Growth Factor 23, PMT). FGF-23 causes abnormal renal phosphate consumption and hypophosphatemia and is often subject to repeated examination and treatment before diagnosis, and the process of definitive diagnosis usually lasts several years. Most of these patients can be cured by surgical resection of the tumor, but the tumor causing this disease is often small in size, hidden in location, and difficult to detect. Multiple examination methods are needed to determine the location of the tumor, and cases of complete bone loss caused by direct tumor erosion have not been reported in the literature. We report a case in which the third metacarpal bone was lost due to direct tumor erosion, which was treated with prostheses made of bone cement. We also reviewed the relevant literature to explore the diagnosis of tumor-related osteomalacia and the treatment strategy used for this extremely rare case.\u003c/p\u003e","manuscriptTitle":"A case of metacarpal coloboma caused by Tumor-induced Osteomalacia treated with bone cement prosthesis and literature review","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-03-11 18:26:47","doi":"10.21203/rs.3.rs-4048662/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"d511078f-b577-4728-8359-267eab5e48ae","owner":[],"postedDate":"March 11th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":29246506,"name":"Orthopedic Surgery"}],"tags":[],"updatedAt":"2024-03-11T18:26:47+00:00","versionOfRecord":[],"versionCreatedAt":"2024-03-11 18:26:47","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4048662","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4048662","identity":"rs-4048662","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}