LAUSR

OBJECTIVE In order to explore the use of Skindex scoring in NF1 patients across multiple clinical sites, and inform design of additional quality of life measures, we analysed correlations between skindex, site and clinical parameters for 79 patients with NF1 from specialised clinics in Sydney, NSW Australia (RNS) and Minneapolis Minnesota, USA (UMN). METHODS The relationship between the clinical factors and Skindex scores were explored by clinic site and overall. RESULTS 40 subjects were recruited from RNS and 39 from UMN. Female sex, total number of cNFs, and whether cNFs were present on the face, correlated highly with skindex and not Riccardi scores. The UMN site had lower average scores, but these differences were almost entirely removed after adjusting for age, sex, facial CNFs and total CNF number. CONCLUSIONS The development of cutaneous neurofibromas (cNFs) in adolescence and adulthood in neurofibromatosis, type 1 (NF1) often lead to progressive disfigurement and discomfort, and are among one of the most common reasons for patients to seek medical treatment. Skindex has been used to assess skin related quality of life in NF1 previously but is not specific to NF1. These findings highlight the need for a low threshold for referral to Dermatologists for all patients with Neurofibromatosis Type 1 regardless of the severity of disease. The finding that facial CNFs and higher total number of CNFs correlates with poorer skin related quality of life, may benefit design of more specific NF1 skin related quality of life measures.