Body-Focused Repetitive Behaviors in Patients with Neurofibromatosis Type 1

INTRODUCTIONBody-focused repetitive behaviors (BFRBs), including skin picking, onychophagia, onychotillomania, and trichotillomania, are psychodermatologic conditions characterized by repetitive self-injury. While neuropsychiatric comorbidities are common in neurofibromatosis type 1 (NF1), prevalence and quality-of-life (QoL) impact of BFRBs in these individuals are underexplored. We aimed to characterize BFRB prevalence and assess association with dermatology-related QoL in a national NF1 cohort.

METHODSA voluntary online survey was distributed to NF1 registry members. Participants reported BFRBs and dermatology-related QoL using the Dermatology Life Quality Index (DLQI). Multivariable logistic regression assessed predictors of moderate-severe QoL impairment.

RESULTSAmong 143 respondents, 73.4% reported ≥1 BFRB. Skin picking was most common (55.3%), followed by onychophagia (39.8%), onychotillomania (35.2%), and trichotillomania (17.9%). Respondents with any BFRB had significantly worse QoL vs. those without (mean DLQI score 7.28 vs. 4.03; p < 0.001). Any BFRB increased odds of moderate-severe impairment (OR 4.88; p = 0.007) with higher odds per additional BFRB (OR 1.93; p < 0.001).

CONCLUSIONWe found that BFRBs are highly prevalent and independently associated with poorer QoL in NF1 patients. Screening for BFRBs during dermatologic evaluation in patients with NF1 may improve early recognition and reduce grooming-related skin and nail injury.

Abstract from PubMed