Subungual glomus tumors in neurofibromatosis type 1: a national survey-based study
摘要
Glomus tumors are predominantly benign neoplasms most commonly occurring in the distal digits and subungual region. 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 to assess for prior glomus tumor diagnosis, nail signs and symptoms, 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 higher DLQI compared with asymptomatic participants (p = 0.009), reflecting worse quality of life. 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 prompt surgical excision, thereby reducing avoidable morbidity.