Cross-Sectional Survey of Unmet Needs in Children With NF1 and Cutaneous Neurofibromas

Neurofibromatosis type 1 (NF1) is a common neurocutaneous disorder in which cutaneous neurofibromas (cNFs) typically begin to emerge during adolescence and substantially impair quality of life, yet no FDA-approved medical therapies exist. We conducted a cross-sectional needs assessment survey of the Pediatric Dermatology Research Alliance (PeDRA) Genetics Subgroup to evaluate pediatric dermatologists' roles, barriers, and readiness to implement emerging cNF therapies. Among 131 respondents (94% response rate), pediatric dermatologists were highly engaged in NF1 diagnosis and follow-up but were underrepresented in multidisciplinary clinics, with surgical excision remaining the predominant treatment and lack of effective therapies the most cited barrier. Despite this, respondents expressed strong interest in clinical trials and collaboration, underscoring pediatric dermatologists' readiness to lead future cNF care in adolescents and young adults with NF1.

Abstract from PubMed