Abstract

Cutaneous neurofibromas (cNF) contribute to the impairment of quality of life (QoL) in individuals with neurofibromatosis 1 (NF1). The cNF-Skindex, validated in a French population, specifically assesses the cNF-related QoL. In this study, we first defined severity strata using an anchoring approach based on patient's burden. In total, 209 patients answered the anchor question and the cNF-Skindex. We tested the agreement between the three strata, generated by all potential couples of cut-off values of the cNF-Skindex, and the three strata defined in the anchor question. The cut-off values 12 and 49 provided the highest Kappa value (K=0.685, 95%IC [0.604; 0.765]). Second, we validated the score and the strata in an US population using the answers of 220 French and 148 US adults. In the multivariable linear regression, the country of origin was not a factor associated with the score (p=0.297). The number of cNF along the different severity strata was similar between the French and the US populations. In conclusion, the stratification constitutes a powerful tool to better interpret the cNF-Skindex in daily practice and in clinical trials. This study validates its use in two populations which together constitute a large cohort of patients willing to participate in clinical research.

View details for DOI 10.1016/j.jid.2023.04.014

View details for PubMedID 37149083