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Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: Development, validation and severity strata of the cNF-PUSH-D.

Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: Development, validation and severity strata of the cNF-PUSH-D. The British journal of dermatology Fertitta, L., Sarin, K. Y., Romo, C. G., Bergqvist, C., Blakeley, J. O., Peiffer, B., Tran, V., Armand, M., Moryousef, S., Ferkal, S., Le Corvoisier, P., Ezzedine, K., Wolkenstein, P. 2025

Abstract

BACKGROUND: Cutaneous neurofibromas (cNFs) are benign skin tumors affecting over 95% of individuals with neurofibromatosis type 1 (NF1). Their visible appearance often leads to altered body image, social isolation, and discrimination. Although stigma is a well-recognized burden in NF1 and has been identified by the REiNS consortium as a key outcome subdomain for future cNF clinical trials, no specific tool has been developed to assess it in relation to cNFs.OBJECTIVES: To adapt, develop and validate a Patient-Reported Outcome Measure (PROM)-the cNF-PUSH-D-specifically designed to assess stigma in adults with NF1 and cNFs, and to define its severity strata.METHODS: An expert working group including patients with NF1 modified the existing PUSH-D (used in chronic dermatoses) to create the 19-item cNF-PUSH-D. Following a pilot phase, a 13-item version was tested and validated through two cross-sectional studies: one in France (n=224) via the ComPaRe NF1 cohort, and another in the US (n=142) via the NF Genetics Cohort. Psychometric properties were evaluated through exploratory and confirmatory factor analyses, Cronbach's alpha, and intraclass correlation coefficients. Convergent validity was assessed against the cNF-Skindex, GAD-7, and PHQ-9. Severity strata were defined using responses to a stigma anchor item.RESULTS: The cNF-PUSH-D demonstrated excellent reliability (Cronbach's alpha = 0.941; ICC = 0.939) and strong construct validity. We identified two dimensions: "felt-stigma" and "enacted-stigma." The score correlated significantly with anxiety, depression, and QoL measures (all p < 0.001). Severity strata were defined as: low (0-21), moderate (22-32), and high (>33) stigma (kappa = 0.516). A higher number of cNFs (=100) was significantly associated with greater stigma. Scores were comparable between the US and French cohorts, and measurement invariance testing confirmed that the factorial structure remained consistent across countries.CONCLUSIONS: The cNF-PUSH-D is the first validated PROM to assess stigma specific to cNFs. It demonstrates strong psychometric properties across international populations and fills a critical gap for ongoing and future clinical trials in NF1. By quantifying stigma, the tool enables better understanding, monitoring, and ultimately, management of this key aspect of the cNF disease burden.

View details for DOI 10.1093/bjd/ljaf479

View details for PubMedID 41290043