Subungual Glomus Tumors in Neurofibromatosis Type 1: A National Survey-Based Study

Subungual Glomus Tumors in Neurofibromatosis Type 1: A National Survey-Based Study | 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 Short Report Subungual Glomus Tumors in Neurofibromatosis Type 1: A National Survey-Based Study Natalia V. Chalupczak, Nuran Golbasi, Shari R. Lipner This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8620368/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 9 You are reading this latest preprint version Abstract Glomus tumors are benign neoplasms most commonly occurring in the subungual region and distal digits. Prior studies suggest an association between glomus tumors and neurofibromatosis type 1 (NF1) but prevalence and quality-of-life (QoL) impact remain incompletely defined. We conducted a national survey-based study to evaluate prevalence of subungual glomus tumor diagnosis and glomus tumor-related nail symptoms among individuals with NF1 and to assess associated dermatology-related QoL. Following IRB exemption, an online survey was distributed to NF1 patients enrolled in the Children’s Tumor Foundation registry. Participants reported prior glomus tumor diagnosis, nail symptoms/signs, and Dermatology Life Quality Index (DLQI). Among 143 respondents, complete responses were available for 120. Overall, 8.9% reported a prior subungual glomus tumor diagnosis and 43.4% reported ≥1 related symptom. Notably, 40.2% of participants without a prior diagnosis reported symptoms, suggesting under-recognition. Respondents with ≥1 symptom had significantly worse DLQI compared with asymptomatic participants (p=0.009). In adjusted models, symptom presence was associated with moderate to severe QoL impairment (DLQI ≥6; OR 2.28, 95% CI 1.05–4.96). Targeted nail screening during NF1 surveillance may facilitate earlier recognition and reduce avoidable morbidity. glomus tumor neurofibromatosis type 1 NF1 nail tumors quality of life nail pain survey study dermatology screening Full Text Glomus tumors are benign neoplasms that are common in the subungual region and distal digits and present with cold hypersensitivity, pinpoint tenderness, and paroxysmal pain. Prior studies identified an association between glomus tumors and neurofibromatosis type 1 (NF1).[1–3] However, prevalence of glomus tumors in this population and impact on functioning is understudied. Therefore, we sought to evaluate prevalence of glomus tumors and assess impact on quality of life (QoL) in a national cohort of NF1 patients. After the Weill Cornell Institutional Review Board granted exemption, a voluntary online survey was distributed via email to NF1 patients registered in the Children's Tumor Foundation. Participants were queried for demographic information, glomus tumor–related nail symptoms and signs (pain with cold, pain with pressure, nocturnal pain, blue/red nail discoloration), prior glomus tumor diagnosis, and dermatology-related QoL. QoL was assessed using the Dermatology Life Quality Index (DLQI) with the standard 10 items scored 0–3, a total score range of 0–30, with higher scores indicating worse QoL.[4] Responses were anonymized and analyzed descriptively. Group differences in DLQI scores were evaluated using Mann-Whitney U test. Multivariable logistic regression evaluated associations with moderate–severe QoL impairment (DLQI≥6). A total of 143 NF1 respondents began the survey, with complete responses for 84% of participants (n=120). Mean age was 47.2 ± 16.5 years, 72.1% were female and 87.1% were White (Table 1). Overall, 8.9% (n=11/123) of participants reported a subungual glomus tumor diagnosis (Table 2). Glomus tumor signs or symptoms were reported in 43.4% (n=53/122) of respondents, most commonly pain with cold (n=37/122; 30.3%), followed by pain with pressure (n=27/119; 22.7%), blue/red nail discoloration (n=20/118; 16.9%), and nocturnal pain (n=15/119; 12.6%). Of participants without a glomus tumor diagnosis, 40.2% reported subungual glomus tumor-related symptoms, including pain with cold (27.7%), pain with pressure (19.3%), blue/red nail discoloration (14.8%), and nocturnal pain (11.8%). Respondents with ≥1 glomus tumor symptom (n=53) had worse dermatologic QoL compared with asymptomatic participants (n=68), with higher mean DLQI scores (8.1 ± 6.8 vs 5.2 ± 4.8; p=0.009). In multivariable logistic regression adjusting for sex and age, presence of any glomus signs or symptoms (pain with cold, blue/red discoloration, pain with pressure, nocturnal pain) was associated with moderate–severe QoL impairment, defined as a DLQI score ≥ 6 (OR 2.28; 95%CI:1.05–4.96; p=0.038). Each additional glomus symptom reported increased odds of impairment, indicating a graded association (OR 1.54; 95%CI:1.06–2.22; p=0.022). We found that almost 1/10 NF1 subjects reported being diagnosed with a subungual glomus tumor and another 4/10 reported glomus-related signs and symptoms. This prevalence is exceptionally high, reinforcing prior studies, and likely higher than in the general population (accounting for <2% of all soft-tissue tumors).[5] Similarly, in a retrospective cohort study[1] of 21 patients with glomus tumors of the wrist or hand (exact locations unspecified), 29% of patients had a confirmed diagnosis of NF (3 with confirmed NF1 and 3 with unspecified type of NF) compared to none in the control group (OR=168; 95%CI:9–3,128; p<0.001). In addition, in a retrospective chart review[2] including 42 glomus tumors identified in 34 patients, 28.6% (n=12) of the tumors were found in 6 patients with NF1 (n= 6/32; 17.7% patients with NF1). For the NF1 patients, 83% of glomus tumors involved the hand (10/12 tumors), and roughly evenly distributed among the 5 digits, with 25% involving the thumb. In addition, multiple case series have described high subungual tumor prevalence in NF1 patients.[6, 7] The genetic mechanism is due to a biallelic inactivation of NF1. In a translational molecular study analyzing NF1-associated (n=12) and sporadic glomus tumor (n=2) specimens, NF1-associated tumors exhibited biallelic NF1 loss with downstream RAS–MAPK pathway hyperactivation (unlike sporadic cases), supporting loss of neurofibromin as a central mechanism in glomus tumor pathogenesis in NF1. Delayed diagnosis of subungual glomus tumors is common and may contribute to avoidable morbidity. For example, in a retrospective study[8] including 37 patients with confirmed glomus tumors in the thumbs or fingertips, average delay in diagnosis was 4-years. In our study, nearly half of surveyed individuals with NF1 reported at least one glomus tumor-related nail symptom, yet the vast majority of symptomatic participants had never been diagnosed, suggesting substantial under recognition. This diagnostic gap may contribute to preventable pain-related disability and diminished QoL. Our findings align with previous research showing that digital glomus tumors have a negative impact on QoL. For example, in a retrospective study[9] of 23 upper-limb glomus tumors (87% in fingers) in 22 patients, pain improved dramatically after treatment (VAS 8.7 preoperatively vs 0.8 postoperatively), with disappearance of pain in 91% of cases, reduction in physical effort limitation (45% preoperatively vs 9% postoperatively; p=0.006), improvement in fine motor function (p=0.03), and favorable emotional and social impacts (27% and 36% preoperative impairment vs 9% postoperative). NF is typically diagnosed in teenage years and glomus tumors more often present in adulthood. For example, in a cross-sectional analysis[10] of 370 patients with NF1, the mean age at NF1 diagnosis was 14.1 ± 12.9 years (median 13 years). However, glomus tumors may be the first clinical indicator of NF1, including reports in pediatric patients.[3] Accordingly, when a glomus tumor is identified, physicians should maintain a high index of suspicion for underlying NF1 and ensure appropriate evaluation and referral. Classic physical examination findings of subungual glomus tumors include longitudinal erythronychia or a blue/red-blue nail plate discloration.[11, 12] Imaging can aid in diagnosis with MRI being the most sensitive modality.[13, 14] Incorporating targeted screening for glomus tumor-associated nail symptoms and signs, such as cold sensitivity, localized nail pain with pressure, nocturnal pain, and red/blue nail discloration, into routine NF1 surveillance may facilitate earlier recognition and intervention.[15] Study limitations include reliance on self-reported symptoms without clinical confirmation which may lead to misclassification of glomus tumor presence or severity. The sample may overrepresent individuals with more bothersome symptoms. The cross-sectional design prevents assessment of symptom onset, diagnostic delay, or temporal changes. Some survey items had missing responses which may have limited power for subgroup analyses. In sum, we found that individuals with NF1 had high prevalence of subungual glomus tumors or related signs and symptoms, which predicted significantly poor QoL and functional impairment, highlighting an opportunity to improve care. Incorporating routine nail-focused evaluation into NF1 patient clinical visits may improve recognition, expedite management, and reduce prolonged pain and disability. Prospective studies are needed to corroborate our findings. Declarations IRB Status : This study was reviewed and approved by the Medical Ethical Review Committee of Weill Cornell Medicine (IRB #23-11026690). The study has been granted an exemption from requiring written informed consent by the medical ethical review committee of Weill Cornell Medicine. Informed consent: Exempt Funding: None Conflicts of Interest: None Financial Disclosures: Dr. Shari R. Lipner has served as a consultant for BelleTorus Corporation and Moberg Pharmaceuticals. Ms. Natalia Chalupczak and Ms. Nuran Golbasi have no financial disclosures. Author Contributions : NVC: Data collection, data interpretation, manuscript drafting. NG: Data analysis, manuscript drafting. SRL: Study supervision, critical manuscript revision. All authors approved the final manuscript. Ethical considerations: This study was reviewed and approved by the Medical Ethical Review Committee of Weill Cornell Medicine (IRB #23-11026690). The study has been granted an exemption from requiring written informed consent by the medical ethical review committee of Weill Cornell Medicine. Data Availability Statement: De-identified survey data are available from the corresponding author upon reasonable request due to privacy protection. References Harrison B, Moore AM, Calfee R, Sammer DM (2013) The association between glomus tumors and neurofibromatosis. J Hand Surg Am 38:1571–1574 Kumar MG, Emnett RJ, Bayliss SJ, Gutmann DH (2014) Glomus tumors in individuals with neurofibromatosis type 1. J Am Acad Dermatol 71:44–48 Brems H, Park C, Maertens O, et al (2009) Glomus tumors in Neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association. Cancer Res 69:7393–7401 Finlay AY, Khan GK (1994) Dermatology Life Quality Index (DLQI)--a simple practical measure for routine clinical use. Clin Exp Dermatol 19:210–216 Gombos Z, Zhang PJ (2008) Glomus tumor. Arch Pathol Lab Med 132:1448–1452 Kim YC (2000) An additional case of solitary subungual glomus tumor associated with neurofibromatosis 1. J Dermatol 27:418–419 De Smet L, Sciot R, Legius E (2002) Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1. J Med Genet 39:e45 Santoshi JA, Kori VK, Khurana U (2019) Glomus tumor of the fingertips: A frequently missed diagnosis. J Family Med Prim Care 8:904–908 Faisan Smilevitch D, Chaput B, Grolleau J-L, et al (2014) Improvement in quality of life after surgery for glomus tumors of the fingers. Chir Main 33:330–335 Abecassis S, Bastuji-Garin S, Khosrotehrani K, et al (2008) Age at diagnosis of neurofibromatosis 1: an audit of practice. Dermatology 216:347–348 Lipner SR, Scher RK (2021) Subungual glomus tumors: Underrecognized clinical findings in neurofibromatosis 1. J Am Acad Dermatol 84:e269 Hwang JK, Lipner SR (2023) Blue nail discoloration: Literature review and diagnostic algorithms. Am J Clin Dermatol 24:419–441 Lee DK, Hill RC, Desai AD, Lipner SR (2024) Utility of imaging in diagnosing subungual glomus tumors: A single-center retrospective study. J Am Acad Dermatol 91:348–350 Lipner SR, Scher RK (2016) Longitudinal erythronychia of the fingernail. JAMA Dermatol 152:1271 Curtis KL, Ho B, Jellinek NJ, et al (2024) Diagnosis and management of longitudinal erythronychia: A clinical review by an expert panel. J Am Acad Dermatol 91:480–489 Tables Table 1 . Baseline characteristics of NF1 survey respondents Category Characteristic n Value Age Age, years 127 47.2 ± 16.5 Age at NF1 diagnosis, years 139 11.5 ± 12.5 Sex (N=140) Female sex 101/140 72.1% Male sex 39/140 27.9% Race (N=139) White race 121/139 87.1% Black race 6/139 4.3% Asian race 1/139 0.7% Native American race 1/139 0.7% Other race combinations 10/139 7.2% Ethnicity (N=137) Not Hispanic ethnicity 127/137 92.7% Hispanic ethnicity 10/137 7.3% Education (N=138) High school education 49/138 35.5% College education 51/138 37.0% Graduate education 38/138 27.5% Insurance (N=137) Private insurance 77/137 56.2% Public insurance 52/137 38.0% Uninsured 8/137 5.8% Legend: Demographic and clinical characteristics of adults with neurofibromatosis type 1 (NF1). Continuous variables are summarized as mean ± SD. Categorical values represent n/N (%), where N reflects the number of respondents with available data for that item. Missing responses were excluded from percentage calculations. Table 2. Prevalence of glomus tumors and related nail symptoms and proportion of symptomatic participants lacking a prior glomus tumor diagnosis Tumor/Symptom Prevalence in NF1 n/N (%) Prevalence in Undiagnosed n/N (%) Undiagnosed among Symptomatic n/N (%) Subungual glomus tumor diagnosis 11/123 (8.9%) – – Pain with cold 37/122 (30.3%) 31/112 (27.7%) 31/37 (83.8%) Pain with pressure 27/119 (22.7%) 21/109 (19.3%) 21/27 (77.8%) Nocturnal pain 15/119 (12.6%) 13/110 (11.8%) 13/15 (86.7%) Blue/red nail discoloration 20/118 (16.9%) 16/108 (14.8%) 16/20 (80.0%) Any symptom 53/122 (43.4%) 45/112 (40.2%) 45/53 (84.9%) Legend: Prevalence of self-reported glomus tumor-related nail symptoms among NF1 participants. Prevalence in NF1 n/N (%) represents the number of participants reporting a nail-related symptom or diagnosis among those who responded to each item in the full cohort. Prevalence in undiagnosed n/N (%) represents the number of participants reporting a nail-related symptom among respondents without a prior glomus tumor diagnosis. Undiagnosed among symptomatic n/N (%) represents the proportion of participants reporting a nail-related symptom who reported no prior glomus tumor diagnosis. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 04 Mar, 2026 Reviews received at journal 27 Feb, 2026 Reviewers agreed at journal 17 Feb, 2026 Reviews received at journal 16 Feb, 2026 Reviewers agreed at journal 13 Feb, 2026 Reviewers invited by journal 10 Feb, 2026 Editor assigned by journal 19 Jan, 2026 Submission checks completed at journal 19 Jan, 2026 First submitted to journal 16 Jan, 2026 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-8620368","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Short Report","associatedPublications":[],"authors":[{"id":591732668,"identity":"24f4556b-e6c6-44e1-8216-87f2da23c74d","order_by":0,"name":"Natalia V. 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Prior studies identified an association between glomus tumors and neurofibromatosis type 1 (NF1).[1–3] However, prevalence of glomus tumors in this population and impact on functioning is understudied. Therefore, we sought to evaluate prevalence of glomus tumors and assess impact on quality of life (QoL) in a national cohort of NF1 patients.\u003c/p\u003e\n\u003cp\u003eAfter the Weill Cornell Institutional Review Board granted exemption, a voluntary online survey was distributed via email to NF1 patients registered in the Children's Tumor Foundation. Participants were queried for demographic information, glomus tumor–related nail symptoms and signs (pain with cold, pain with pressure, nocturnal pain, blue/red nail discoloration), prior glomus tumor diagnosis, and dermatology-related QoL. QoL was assessed using the Dermatology Life Quality Index (DLQI) with the standard 10 items scored 0–3, a total score range of 0–30, with higher scores indicating worse QoL.[4] Responses were anonymized and analyzed descriptively. Group differences in DLQI scores were evaluated using Mann-Whitney U test. Multivariable logistic regression evaluated associations with moderate–severe QoL impairment (DLQI≥6).\u003c/p\u003e\n\u003cp\u003eA total of 143 NF1 respondents began the survey, with complete responses for 84% of participants (n=120). Mean age was 47.2 ± 16.5 years, 72.1% were female and 87.1% were White (Table 1). Overall, 8.9% (n=11/123) of participants reported a subungual glomus tumor diagnosis (Table 2). Glomus tumor signs or symptoms were reported in 43.4% (n=53/122) of respondents, most commonly pain with cold (n=37/122; 30.3%), followed by pain with pressure (n=27/119; 22.7%), blue/red nail discoloration (n=20/118; 16.9%), and nocturnal pain (n=15/119; 12.6%). Of participants without a glomus tumor diagnosis, 40.2% reported subungual glomus tumor-related symptoms, including pain with cold (27.7%), pain with pressure (19.3%), blue/red nail discoloration (14.8%), and nocturnal pain (11.8%).\u003c/p\u003e\n\u003cp\u003eRespondents with ≥1 glomus tumor symptom (n=53) had worse dermatologic QoL compared with asymptomatic participants (n=68), with higher mean DLQI scores (8.1 ± 6.8 vs 5.2 ± 4.8; p=0.009). In multivariable logistic regression adjusting for sex and age, presence of any glomus signs or symptoms (pain with cold, blue/red discoloration, pain with pressure, nocturnal pain) was associated with moderate–severe QoL impairment, defined as a DLQI score ≥ 6 (OR 2.28; 95%CI:1.05–4.96; p=0.038). Each additional glomus symptom reported increased odds of impairment, indicating a graded association (OR 1.54; 95%CI:1.06–2.22; p=0.022).\u003c/p\u003e\n\u003cp\u003eWe found that almost 1/10 NF1 subjects reported being diagnosed with a subungual glomus tumor and another 4/10 reported glomus-related signs and symptoms. This prevalence is exceptionally high, reinforcing prior studies, and likely higher than in the general population (accounting for \u0026lt;2% of all soft-tissue tumors).[5] Similarly, in a retrospective cohort study[1] of 21 patients with glomus tumors of the wrist or hand (exact locations unspecified), 29% of patients had a confirmed diagnosis of NF (3 with confirmed NF1 and 3 with unspecified type of NF) compared to none in the control group (OR=168; 95%CI:9–3,128; p\u0026lt;0.001). In addition, in a retrospective chart review[2] including 42 glomus tumors identified in 34 patients, 28.6% (n=12) of the tumors were found in 6 patients with NF1 (n= 6/32; 17.7% patients with NF1). For the NF1 patients, 83% of glomus tumors involved the hand (10/12 tumors), and roughly evenly distributed among the 5 digits, with 25% involving the thumb. In addition, multiple case series have described high subungual tumor prevalence in NF1 patients.[6, 7] The genetic mechanism is due to a biallelic inactivation of NF1. In a translational molecular study analyzing NF1-associated (n=12) and sporadic glomus tumor (n=2) specimens, NF1-associated tumors exhibited biallelic NF1 loss with downstream RAS–MAPK pathway hyperactivation (unlike sporadic cases), supporting loss of neurofibromin as a central mechanism in glomus tumor pathogenesis in NF1.\u003c/p\u003e\n\u003cp\u003eDelayed diagnosis of subungual glomus tumors is common and may contribute to avoidable morbidity. For example, in a retrospective study[8] including 37 patients with confirmed glomus tumors in the thumbs or fingertips, average delay in diagnosis was 4-years. In our study, nearly half of surveyed individuals with NF1 reported at least one glomus tumor-related nail symptom, yet the vast majority of symptomatic participants had never been diagnosed, suggesting substantial under recognition. This diagnostic gap may contribute to preventable pain-related disability and diminished QoL. Our findings align with previous research showing that digital glomus tumors have a negative impact on QoL. For example, in a retrospective study[9] of 23 upper-limb glomus tumors (87% in fingers) in 22 patients, pain improved dramatically after treatment (VAS 8.7 preoperatively vs 0.8 postoperatively), with disappearance of pain in 91% of cases, reduction in physical effort limitation (45% preoperatively vs 9% postoperatively; p=0.006), improvement in fine motor function (p=0.03), and favorable emotional and social impacts (27% and 36% preoperative impairment vs 9% postoperative).\u003c/p\u003e\n\u003cp\u003eNF is typically diagnosed in teenage years and glomus tumors more often present in adulthood. For example, in a cross-sectional analysis[10] of 370 patients with NF1, the mean age at NF1 diagnosis was 14.1 ± 12.9 years (median 13 years). However, glomus tumors may be the first clinical indicator of NF1, including reports in pediatric patients.[3] Accordingly, when a glomus tumor is identified, physicians should maintain a high index of suspicion for underlying NF1 and ensure appropriate evaluation and referral. Classic physical examination findings of subungual glomus tumors include longitudinal erythronychia or a blue/red-blue nail plate discloration.[11, 12] Imaging can aid in diagnosis with MRI being the most sensitive modality.[13, 14] Incorporating targeted screening for glomus tumor-associated nail symptoms and signs, such as cold sensitivity, localized nail pain with pressure, nocturnal pain, and red/blue nail discloration, into routine NF1 surveillance may facilitate earlier recognition and intervention.[15] \u003c/p\u003e\n\u003cp\u003eStudy limitations include reliance on self-reported symptoms without clinical confirmation which may lead to misclassification of glomus tumor presence or severity. The sample may overrepresent individuals with more bothersome symptoms. The cross-sectional design prevents assessment of symptom onset, diagnostic delay, or temporal changes. Some survey items had missing responses which may have limited power for subgroup analyses.\u003c/p\u003e\n\u003cp\u003eIn sum, we found that individuals with NF1 had high prevalence of subungual glomus tumors or related signs and symptoms, which predicted significantly poor QoL and functional impairment, highlighting an opportunity to improve care. Incorporating routine nail-focused evaluation into NF1 patient clinical visits may improve recognition, expedite management, and reduce prolonged pain and disability. Prospective studies are needed to corroborate our findings.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eIRB Status\u003c/strong\u003e: This study was reviewed and approved by the Medical Ethical Review Committee of Weill Cornell Medicine (IRB #23-11026690). The study has been granted an exemption from requiring written informed consent by the medical ethical review committee of Weill Cornell Medicine.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eInformed consent:\u003c/strong\u003e Exempt\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding:\u003c/strong\u003e None\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConflicts of Interest:\u003c/strong\u003e None\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFinancial Disclosures:\u003c/strong\u003e Dr. Shari R. Lipner has served as a consultant for BelleTorus Corporation and Moberg Pharmaceuticals. Ms. Natalia Chalupczak and Ms. Nuran Golbasi have no financial disclosures.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor Contributions\u003c/strong\u003e\u003cstrong\u003e:\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNVC: Data collection, data interpretation, manuscript drafting.\u003cbr\u003e\u0026nbsp;NG: Data analysis, manuscript drafting.\u003cbr\u003e\u0026nbsp;SRL: Study supervision, critical manuscript revision.\u003cbr\u003e\u0026nbsp;All authors approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthical considerations:\u003c/strong\u003e This study was reviewed and approved by the Medical Ethical Review Committee of Weill Cornell Medicine (IRB #23-11026690). The study has been granted an exemption from requiring written informed consent by the medical ethical review committee of Weill Cornell Medicine.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData Availability Statement:\u0026nbsp;\u003c/strong\u003eDe-identified survey data are available from the corresponding author upon reasonable request due to privacy protection.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eHarrison B, Moore AM, Calfee R, Sammer DM (2013) The association between glomus tumors and neurofibromatosis. J Hand Surg Am 38:1571\u0026ndash;1574\u003c/li\u003e\n\u003cli\u003eKumar MG, Emnett RJ, Bayliss SJ, Gutmann DH (2014) Glomus tumors in individuals with neurofibromatosis type 1. J Am Acad Dermatol 71:44\u0026ndash;48\u003c/li\u003e\n\u003cli\u003eBrems H, Park C, Maertens O, et al (2009) Glomus tumors in Neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association. Cancer Res 69:7393\u0026ndash;7401\u003c/li\u003e\n\u003cli\u003eFinlay AY, Khan GK (1994) Dermatology Life Quality Index (DLQI)--a simple practical measure for routine clinical use. Clin Exp Dermatol 19:210\u0026ndash;216\u003c/li\u003e\n\u003cli\u003eGombos Z, Zhang PJ (2008) Glomus tumor. Arch Pathol Lab Med 132:1448\u0026ndash;1452\u003c/li\u003e\n\u003cli\u003eKim YC (2000) An additional case of solitary subungual glomus tumor associated with neurofibromatosis 1. J Dermatol 27:418\u0026ndash;419\u003c/li\u003e\n\u003cli\u003eDe Smet L, Sciot R, Legius E (2002) Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1. J Med Genet 39:e45\u003c/li\u003e\n\u003cli\u003eSantoshi JA, Kori VK, Khurana U (2019) Glomus tumor of the fingertips: A frequently missed diagnosis. J Family Med Prim Care 8:904\u0026ndash;908\u003c/li\u003e\n\u003cli\u003eFaisan Smilevitch D, Chaput B, Grolleau J-L, et al (2014) Improvement in quality of life after surgery for glomus tumors of the fingers. Chir Main 33:330\u0026ndash;335\u003c/li\u003e\n\u003cli\u003eAbecassis S, Bastuji-Garin S, Khosrotehrani K, et al (2008) Age at diagnosis of neurofibromatosis 1: an audit of practice. Dermatology 216:347\u0026ndash;348\u003c/li\u003e\n\u003cli\u003eLipner SR, Scher RK (2021) Subungual glomus tumors: Underrecognized clinical findings in neurofibromatosis 1. J Am Acad Dermatol 84:e269\u003c/li\u003e\n\u003cli\u003eHwang JK, Lipner SR (2023) Blue nail discoloration: Literature review and diagnostic algorithms. Am J Clin Dermatol 24:419\u0026ndash;441\u003c/li\u003e\n\u003cli\u003eLee DK, Hill RC, Desai AD, Lipner SR (2024) Utility of imaging in diagnosing subungual glomus tumors: A single-center retrospective study. J Am Acad Dermatol 91:348\u0026ndash;350\u003c/li\u003e\n\u003cli\u003eLipner SR, Scher RK (2016) Longitudinal erythronychia of the fingernail. JAMA Dermatol 152:1271\u003c/li\u003e\n\u003cli\u003eCurtis KL, Ho B, Jellinek NJ, et al (2024) Diagnosis and management of longitudinal erythronychia: A clinical review by an expert panel. J Am Acad Dermatol 91:480\u0026ndash;489\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Tables","content":"\u003cp\u003e\u003cstrong\u003eTable 1\u003c/strong\u003e. Baseline characteristics of NF1 survey respondents\u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\" width=\"624\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eCategory\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eCharacteristic\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003en\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003eValue\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eAge\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eAge, years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e127\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e47.2 \u0026plusmn; 16.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eAge at NF1 diagnosis, years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e11.5 \u0026plusmn; 12.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eSex\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e(N=140)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eFemale sex\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e101/140\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e72.1%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eMale sex\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e39/140\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e27.9%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"5\" valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eRace\u003c/p\u003e\n \u003cp\u003e(N=139)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eWhite race\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e121/139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e87.1%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eBlack race\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e6/139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e4.3%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eAsian race\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e1/139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e0.7%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eNative American race\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e1/139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e0.7%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eOther race combinations\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e10/139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e7.2%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eEthnicity (N=137)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eNot Hispanic ethnicity\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e127/137\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e92.7%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eHispanic ethnicity\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e10/137\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e7.3%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"3\" valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eEducation (N=138)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eHigh school education\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e49/138\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e35.5%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eCollege education\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e51/138\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e37.0%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eGraduate education\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e38/138\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e27.5%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"3\" valign=\"top\" style=\"width: 110px;\"\u003e\n \u003cp\u003eInsurance (N=137)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003ePrivate insurance\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e77/137\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e56.2%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003ePublic insurance\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e52/137\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e38.0%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 265px;\"\u003e\n \u003cp\u003eUninsured\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 111px;\"\u003e\n \u003cp\u003e8/137\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 138px;\"\u003e\n \u003cp\u003e5.8%\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e\u003cstrong\u003eLegend:\u003c/strong\u003e Demographic and clinical characteristics of adults with neurofibromatosis type 1 (NF1). Continuous variables are summarized as mean \u0026plusmn; SD. Categorical values represent n/N (%), where N reflects the number of respondents with available data for that item. Missing responses were excluded from percentage calculations.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eTable 2.\u0026nbsp;\u003c/strong\u003ePrevalence of glomus tumors and related nail symptoms and proportion of symptomatic participants lacking a prior glomus tumor diagnosis\u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\" width=\"623\" class=\"fr-table-selection-hover\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003eTumor/Symptom\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003ePrevalence in NF1 n/N (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003ePrevalence in Undiagnosed n/N (%)\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003eUndiagnosed among Symptomatic n/N (%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003eSubungual glomus tumor diagnosis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003e11/123 (8.9%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003e\u0026ndash;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003e\u0026ndash;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003ePain with cold\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003e37/122 (30.3%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003e31/112 (27.7%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003e31/37 (83.8%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003ePain with pressure\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003e27/119 (22.7%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003e21/109 (19.3%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003e21/27 (77.8%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003eNocturnal pain\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003e15/119 (12.6%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003e13/110 (11.8%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003e13/15 (86.7%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003eBlue/red nail discoloration\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003e20/118 (16.9%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003e16/108 (14.8%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003e16/20 (80.0%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 137px;\"\u003e\n \u003cp\u003eAny symptom\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 156px;\"\u003e\n \u003cp\u003e53/122 (43.4%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 162px;\"\u003e\n \u003cp\u003e45/112 (40.2%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 168px;\"\u003e\n \u003cp\u003e45/53 (84.9%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e\u003cstrong\u003eLegend:\u003c/strong\u003e Prevalence of self-reported glomus tumor-related nail symptoms among NF1 participants. Prevalence in NF1 n/N (%) represents the number of participants reporting a nail-related symptom or diagnosis among those who responded to each item in the full cohort. Prevalence in undiagnosed n/N (%) represents the number of participants reporting a nail-related symptom among respondents without a prior glomus tumor diagnosis. Undiagnosed among symptomatic n/N (%) represents the proportion of participants reporting a nail-related symptom who reported no prior glomus tumor diagnosis.\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"archives-of-dermatological-research","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Archives of Dermatological Research](https://www.springer.com/journal/403)","snPcode":"403","submissionUrl":"https://submission.nature.com/new-submission/403/3","title":"Archives of Dermatological Research","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"glomus tumor, neurofibromatosis type 1, NF1, nail tumors, quality of life, nail pain, survey study, dermatology screening","lastPublishedDoi":"10.21203/rs.3.rs-8620368/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8620368/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"Glomus tumors are benign neoplasms most commonly occurring in the subungual region and distal digits. Prior studies suggest an association between glomus tumors and neurofibromatosis type 1 (NF1) but prevalence and quality-of-life (QoL) impact remain incompletely defined. We conducted a national survey-based study to evaluate prevalence of subungual glomus tumor diagnosis and glomus tumor-related nail symptoms among individuals with NF1 and to assess associated dermatology-related QoL. Following IRB exemption, an online survey was distributed to NF1 patients enrolled in the Children’s Tumor Foundation registry. Participants reported prior glomus tumor diagnosis, nail symptoms/signs, and Dermatology Life Quality Index (DLQI). Among 143 respondents, complete responses were available for 120. Overall, 8.9% reported a prior subungual glomus tumor diagnosis and 43.4% reported ≥1 related symptom. Notably, 40.2% of participants without a prior diagnosis reported symptoms, suggesting under-recognition. Respondents with ≥1 symptom had significantly worse DLQI compared with asymptomatic participants (p=0.009). In adjusted models, symptom presence was associated with moderate to severe QoL impairment (DLQI ≥6; OR 2.28, 95% CI 1.05–4.96). Targeted nail screening during NF1 surveillance may facilitate earlier recognition and reduce avoidable morbidity.\n ","manuscriptTitle":"Subungual Glomus Tumors in Neurofibromatosis Type 1: A National Survey-Based Study","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-02-16 14:32:59","doi":"10.21203/rs.3.rs-8620368/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2026-03-05T03:07:38+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-02-27T17:01:04+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"197247711614559033753348470194440340663","date":"2026-02-17T19:56:28+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-02-16T05:47:16+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"155191871922863688922779970637564851883","date":"2026-02-13T09:18:45+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-02-10T19:29:48+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-01-19T10:59:52+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-01-19T10:58:06+00:00","index":"","fulltext":""},{"type":"submitted","content":"Archives of Dermatological Research","date":"2026-01-16T14:57:17+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"archives-of-dermatological-research","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Archives of Dermatological Research](https://www.springer.com/journal/403)","snPcode":"403","submissionUrl":"https://submission.nature.com/new-submission/403/3","title":"Archives of Dermatological Research","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"30fb8765-7c2b-49d6-a3e6-43987013d3d6","owner":[],"postedDate":"February 16th, 2026","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-05-14T15:39:30+00:00","versionOfRecord":[],"versionCreatedAt":"2026-02-16 14:32:59","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-8620368","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8620368","identity":"rs-8620368","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}