Cutaneous neurofibromas: an initial questionnaire to measure patient stigmatization and provide better support

A team of researchers from Hôpital Henri-Mondor AP-HP, Inserm, Université Paris-Est Créteil (UPEC) and the ComPaRe - Neurofibromatosis cohort, coordinated by Dr Laura Fertitta and Pr Pierre Wolkenstein, has developed the cNF-PUSH-D’oe questionnaire.this is the first questionnaire to measure the stigma experienced by people with neurofibromatosis type 1 in relation to cutaneous neurofibromas. This reliable, easy-to-use tool for healthcare professionals paves the way for better identification of the most severely affected patients and more appropriate care. The study was published in the British Journal of Dermatology on November 26, 2025

Neurofibromatosis type 1 (NF1) is a genetic disease characterized by the appearance of "café-au-lait" spots, benign tumors on the nerves (neurofibromas) and sometimes other skin, bone or neurological disorders. Cutaneous neurofibromas are benign tumours, present in over 95% of people with NF1, and can grow by the thousands on patients’ skin, visible to the naked eye. They can have a major impact on daily life, self-image and social attitudes, and can even lead to discrimination

The aim of the study was to develop a tool adapted to the reality of cutaneous neurofibromas, in order to measure the as yet little-documented impact of the stigmatization associated with these lesions

Thanks to the participation of 224 patients from the ComPaRe cohort, psychometric analyses enabled us to develop a final version of the questionnaire comprising 13 items divided into two dimensions: perceived stigmatization and stigmatization experienced in social interactions. Three levels of severity were defined - low, moderate and high - to quantify the intensity of stigmatization

The questionnaire was then translated and tested with 142 American adults, confirming its validity in an international context. The study also showed that patients with a high number of cutaneous neurofibromas reported more stigma

Easy to use, the cNF-PUSH-D is now an essential tool for healthcare professionals to identify the most affected patients and improve their care, particularly in future clinical trials

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

Laura Fertitta, Kavita Y. Sarin, Carlos G. Romo, Christina Bergqvist, Jaishri O. Blakeley, Bastien Peiffer, Viet-Thi Tran, Marie-Laure Armand, Sabine Moryousef, Salah Ferkal, Philippe Le Corvoisier, Khaled Ezzedine, Pierre Wolkenstein

British Journal of Dermatology

DOI: 10.1093/bjd/ljaf479