Congenital Dysplastic Foot with Soft Tissue Overgrowth and Cutaneous Injuries: A Rare Case Presentation

Congenital Dysplastic Foot with Soft Tissue Overgrowth and Cutaneous Injuries: A Rare Case Presentation | 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 Congenital Dysplastic Foot with Soft Tissue Overgrowth and Cutaneous Injuries: A Rare Case Presentation Dr. Debabrata Maitra This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7193140/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 A 22-year-old female presented with superficial cut injuries to her right foot after minor trauma. Examination showed significant deformity of the foot and ankle, extensive soft tissue swelling, and multiple skin nodules. She reported a birth deformity that had gradually increased in size, but without significant pain or functional impairment. Radiographs indicated dysplastic changes in the foot and marked soft tissue overgrowth. AP and oblique views showed absent normal foot architecture, broad phalanges, and abnormal articulation. A lateral radiograph revealed a poorly formed, identifiable talus and calcaneus, suggesting severe dysplasia. Clinical and radiological findings indicated a congenital dysplastic foot with overgrowth, possibly related to localized overgrowth syndrome like Proteus syndrome. Malignant features were not observed. The patient was managed conservatively. Early recognition and imaging are vital to distinguish rare congenital anomalies from neoplastic conditions, avoiding unnecessary interventions and providing patient reassurance. Nuclear Medicine & Medical Imaging Congenital foot anomaly Soft tissue overgrowth Dysplastic foot bones Figures Figure 1 Figure 2 Figure 3 Introduction Congenital anomalies of the foot and ankle are uncommon and include a wide range of skeletal and soft-tissue abnormalities. These malformations may occur alone or as part of a syndrome, and their clinical presentations vary in complexity and severity. Among the rarest conditions are dysplastic feet associated with disproportionate soft tissue overgrowth, skin changes, and structural distortions, which pose diagnostic and therapeutic challenges. Such cases are often misdiagnosed or underreported because of their rarity and overlapping features with other conditions, such as macrodystrophia lipomatosa, fibrolipomatous hamartoma, and localized gigantism. Early and accurate imaging evaluation is essential for defining the extent of bone and soft tissue involvement and guiding proper management. In this report, we present a rare case of a young female with a congenital dysplastic foot associated with localized soft tissue hypertrophy and overlying skin lesions, emphasizing the importance of radiologic assessment in characterizing such unusual presentations. Case Report A 22-year-old female presented to the emergency department with superficial lacerations on her right foot after a minor fall. Upon inspection, the patient exhibited gross enlargement of the right foot and ankle, accompanied by visible skin nodules and disorganized toes. The deformity had been present since birth and had gradually increased in size, although it was not associated with significant functional limitations or systemic symptoms. Radiographic evaluation of the foot (Figures 1 and 2) revealed severely dysplastic bony architecture. The metatarsals and phalanges are broad, shortened, and irregularly aligned. Oblique and AP radiographs demonstrated the absence of clear joint spaces between the tarsal bones. The lateral view (Figure 3) showed a distorted but discernible talus and calcaneus, indicating their presence in the dysplastic form [1]. There was extensive soft tissue overgrowth without calcifications or ossifications suggestive of a neoplasm. No cortical destruction or periosteal reaction was observed. Features were suggestive of a congenital dysplastic foot with massive soft tissue hypertrophy, possibly representing a localized overgrowth disorder, such as Proteus syndrome [2,3]. Proteus syndrome is a rare segmental overgrowth condition that affects various tissues, including bones, fat, and skin [4]. Such presentations are extremely rare and may be mistaken for neoplasms or posttraumatic deformities. Radiographic features, particularly the dysplastic talus and calcaneus, aid in confirming a congenital origin [5]. Given the absence of aggressive features and systemic involvement, conservative management with wound care was performed. The patient was reassured, counselled of the benign nature of the condition, and was referred for orthopedic follow-up. Conclusion Congenital dysplastic foot with soft-tissue overgrowth is a rare anomaly. Radiography remains crucial for the diagnosis and differentiation of congenital deformities from malignancies or vascular anomalies. Awareness of this condition can aid radiologists and clinicians in early diagnosis and appropriate management. Declarations Participant Consent Statement: Written informed consent was obtained from the patient’s legal guardian for participation in this case report and the publication of all accompanying images and information." Also, Abstract and Introduction files have been added to the Manuscript Files section. References Brant WE, Helms CA. Fundamentals of Diagnostic Radiology . 4th ed. Philadelphia, PA: Wolters Kluwer; 2012:1212-1215. Ogden JA. Skeletal Injury in the Child . 3rd ed. New York, NY: Springer; 2000:571-582. Biesecker LG. The multifaceted challenges of Proteus syndrome. JAMA . 2001;285(17):2240-2243. Vilanova JC, Barceló J, Smirniotopoulos JG, et al. Hemangioma from head to toe: MR imaging with pathologic correlation. Radiographics . 2004;24(2):367-385. Stevenson DA, Carey JC, Byrne JL, et al. Clinical characteristics and natural history of Proteus syndrome in 49 individuals. Am J Med Genet A . 2011;155A(6):1325-1333. 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. 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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-7193140","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":489566162,"identity":"a8c3db95-3bc5-42c1-bf25-be0ee70757af","order_by":0,"name":"Dr. Debabrata Maitra","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAABBUlEQVRIiWNgGAWjYDCCAzwMzHA2EMuBGQ+I0CIBZgP1GIMZCcRqAVmT2ABi4NPCd7z34OfCPXZ1/NMOPzz8cY9d+vywww+BttjJ6TZg1yJ55lyy9IxnyRISt9MMDhx4lpy7EcRIYEg2NjuAXYvBjRwDaZ4DzBIMtxOAWg4w526cnQDSciBxGy4t998Y/+Y5UC8hfzv9A1BLfbrhbCADr5YbPGZAWw5LGNzOAdlyOEFeOge/LZJn8tKsZxw4Lrnxdk7BgTMHjhtukAYyEgxw+4Xv+NnDtwsOVPPL3U7f/KHiQLW8/Gwg40OFnRwuLVicClZpQKxyEJBvIEX1KBgFo2AUjAQAAMuQbwGa8+TDAAAAAElFTkSuQmCC","orcid":"https://orcid.org/0009-0000-8840-4373","institution":"College of Medicine and Sagore Dutta Hospital, Kolkata, India","correspondingAuthor":true,"prefix":"Dr.","firstName":"Debabrata","middleName":"","lastName":"Maitra","suffix":""}],"badges":[],"createdAt":"2025-07-23 07:12:07","currentVersionCode":1,"declarations":{"humanSubjects":true,"vertebrateSubjects":false,"conflictsOfInterestStatement":false,"humanSubjectEthicalGuidelines":true,"humanSubjectConsent":true,"humanSubjectClinicalTrial":false,"humanSubjectCaseReport":true,"vertebrateSubjectEthicalGuidelines":false},"doi":"10.21203/rs.3.rs-7193140/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-7193140/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":87708150,"identity":"be032334-9567-4dda-89ce-48506fc5963f","added_by":"auto","created_at":"2025-07-28 08:14:22","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":1371048,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eAP view of the right foot showing broad shortened phalanges, loss of normal bone alignment, and massive soft tissue swelling.\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Figure1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-7193140/v1/8f5decb1b54d10fcf1bde738.jpg"},{"id":87708656,"identity":"9cc0e1b6-26c7-496c-ba57-3d4add1b150f","added_by":"auto","created_at":"2025-07-28 08:22:22","extension":"jpg","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":1250641,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eOblique radiograph showing indistinct tarsal bones and deformity of the metatarsal structure.\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Figure2.jpg","url":"https://assets-eu.researchsquare.com/files/rs-7193140/v1/035ea8bdfc5fa6398622971f.jpg"},{"id":87708157,"identity":"7f761255-e954-4f5f-9adc-c4ba231f7332","added_by":"auto","created_at":"2025-07-28 08:14:23","extension":"jpg","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":1360989,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eLateral view demonstrating a dysplastic but discernible talus and calcaneus, with hypertrophy of the anterior and plantar soft tissue.\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Figure3.jpg","url":"https://assets-eu.researchsquare.com/files/rs-7193140/v1/e1e800305e6a799fadd5a4ee.jpg"},{"id":87708657,"identity":"4cc630b7-4da9-4fb3-9e6c-642e8a044d38","added_by":"auto","created_at":"2025-07-28 08:22:28","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":4333149,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7193140/v1/3f36a16d-0494-4e0b-8e22-df6da60865dd.pdf"}],"financialInterests":"The authors declare no competing interests.","formattedTitle":"\u003cp\u003e\u003cstrong\u003eCongenital Dysplastic Foot with Soft Tissue Overgrowth and Cutaneous Injuries: A Rare Case Presentation\u003c/strong\u003e\u003c/p\u003e","fulltext":[{"header":"Introduction","content":"\u003cp\u003eCongenital anomalies of the foot and ankle are uncommon and include a wide range of skeletal and soft-tissue abnormalities. These malformations may occur alone or as part of a syndrome, and their clinical presentations vary in complexity and severity. Among the rarest conditions are dysplastic feet associated with disproportionate soft tissue overgrowth, skin changes, and structural distortions, which pose diagnostic and therapeutic challenges.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eSuch cases are often misdiagnosed or underreported because of their rarity and overlapping features with other conditions, such as macrodystrophia lipomatosa, fibrolipomatous hamartoma, and localized gigantism. Early and accurate imaging evaluation is essential for defining the extent of bone and soft tissue involvement and guiding proper management.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eIn this report, we present a rare case of a young female with a congenital dysplastic foot associated with localized soft tissue hypertrophy and overlying skin lesions, emphasizing the importance of radiologic assessment in characterizing such unusual presentations.\u003c/p\u003e"},{"header":"Case Report","content":"\u003cp\u003eA 22-year-old female presented to the emergency department with superficial lacerations on her right foot after a minor fall. Upon inspection, the patient exhibited gross enlargement of the right foot and ankle, accompanied by visible skin nodules and disorganized toes. The deformity had been present since birth and had gradually increased in size, although it was not associated with significant functional limitations or systemic symptoms.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eRadiographic evaluation of the foot (Figures 1 and 2) revealed severely dysplastic bony architecture. The metatarsals and phalanges are broad, shortened, and irregularly aligned. Oblique and AP radiographs demonstrated the absence of clear joint spaces between the tarsal bones. The lateral view (Figure 3) showed a distorted but discernible talus and calcaneus, indicating their presence in the dysplastic form [1].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThere was extensive soft tissue overgrowth without calcifications or ossifications suggestive of a neoplasm. No cortical destruction or periosteal reaction was observed. Features were suggestive of a congenital dysplastic foot with massive soft tissue hypertrophy, possibly representing a localized overgrowth disorder, such as Proteus syndrome [2,3].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eProteus syndrome is a rare segmental overgrowth condition that affects various tissues, including bones, fat, and skin [4]. Such presentations are extremely rare and may be mistaken for neoplasms or posttraumatic deformities. Radiographic features, particularly the dysplastic talus and calcaneus, aid in confirming a congenital origin [5].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eGiven the absence of aggressive features and systemic involvement, conservative management with wound care was performed. The patient was reassured, counselled of the benign nature of the condition, and was referred for orthopedic follow-up.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eCongenital dysplastic foot with soft-tissue overgrowth is a rare anomaly. Radiography remains crucial for the diagnosis and differentiation of congenital deformities from malignancies or vascular anomalies. Awareness of this condition can aid radiologists and clinicians in early diagnosis and appropriate management.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cspan\u003eParticipant Consent Statement: Written informed consent was obtained from the patient\u0026rsquo;s legal guardian for participation in this case report and the publication of all accompanying images and information.\u0026quot; Also, Abstract and Introduction files have been added to the Manuscript Files section.\u003c/span\u003e\u003c/p\u003e"},{"header":"References","content":"\u003col start=\"1\" type=\"1\"\u003e\n \u003cli\u003eBrant WE, Helms CA. \u003cem\u003eFundamentals of Diagnostic Radiology\u003c/em\u003e. 4th ed. Philadelphia, PA: Wolters Kluwer; 2012:1212-1215.\u003c/li\u003e\n \u003cli\u003eOgden JA. \u003cem\u003eSkeletal Injury in the Child\u003c/em\u003e. 3rd ed. New York, NY: Springer; 2000:571-582.\u003c/li\u003e\n \u003cli\u003eBiesecker LG. The multifaceted challenges of Proteus syndrome. \u003cem\u003eJAMA\u003c/em\u003e. 2001;285(17):2240-2243.\u003c/li\u003e\n \u003cli\u003eVilanova JC, Barcel\u0026oacute; J, Smirniotopoulos JG, et al. Hemangioma from head to toe: MR imaging with pathologic correlation. \u003cem\u003eRadiographics\u003c/em\u003e. 2004;24(2):367-385.\u003c/li\u003e\n \u003cli\u003eStevenson DA, Carey JC, Byrne JL, et al. Clinical characteristics and natural history of Proteus syndrome in 49 individuals. \u003cem\u003eAm J Med Genet A\u003c/em\u003e. 2011;155A(6):1325-1333.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"Collge of Medicine and Sagore Dutta Hospital, Kolkata, India","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":"Congenital foot anomaly, Soft tissue overgrowth, Dysplastic foot bones","lastPublishedDoi":"10.21203/rs.3.rs-7193140/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7193140/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eA 22-year-old female presented with superficial cut injuries to her right foot after minor trauma. Examination showed significant deformity of the foot and ankle, extensive soft tissue swelling, and multiple skin nodules. She reported a birth deformity that had gradually increased in size, but without significant pain or functional impairment. Radiographs indicated dysplastic changes in the foot and marked soft tissue overgrowth. AP and oblique views showed absent normal foot architecture, broad phalanges, and abnormal articulation. A lateral radiograph revealed a poorly formed, identifiable talus and calcaneus, suggesting severe dysplasia. Clinical and radiological findings indicated a congenital dysplastic foot with overgrowth, possibly related to localized overgrowth syndrome like Proteus syndrome. Malignant features were not observed. The patient was managed conservatively. Early recognition and imaging are vital to distinguish rare congenital anomalies from neoplastic conditions, avoiding unnecessary interventions and providing patient reassurance.\u003c/p\u003e","manuscriptTitle":"Congenital Dysplastic Foot with Soft Tissue Overgrowth and Cutaneous Injuries: A Rare Case Presentation","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-07-28 08:14:17","doi":"10.21203/rs.3.rs-7193140/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":"ca067809-6565-4d0e-9424-a3916f71da42","owner":[],"postedDate":"July 28th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":51973621,"name":"Nuclear Medicine \u0026 Medical Imaging"}],"tags":[],"updatedAt":"2025-07-28T08:14:18+00:00","versionOfRecord":[],"versionCreatedAt":"2025-07-28 08:14:17","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-7193140","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7193140","identity":"rs-7193140","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}