Measuring the Effect of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1

Abstract

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.

Impact of Neurofibromatosis Type 1 on Quality of Life Using the Skindex-29 Questionnaire Quality of Life in Nf1

“…To date only a few studies have assessed quality of life in NF1 patients (12)(13)(14)(15). Compared to prior studies, our patients reported a lower impact of NF1 in their quality of life as their scores were lower than in prior reports.…”

Global research trends in cutaneous neurofibromas: A bibliometric analysis from 2003 to 2022

“…Maguiness et al found that patients with a higher burden of cNF, especially more visible and facial lesions, experienced significantly poorer skinspecific quality of life as assessed by the Skindex questionnaire. 44 However, the researchers also acknowledged certain limitations of the Skindex as an evaluation tool for cNF, noting that Riccardi scores exhibited poor correlation with Skindex domains. This suggested that the Skindex instrument should be utilized independently, as it may fail to capture all relevant factors pertaining to cNF that influence patients' quality of life.…”

Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1

“…One of the most common manifestations of NF1 is the development of benign skin tumors called cutaneous neurofibromas (cNFs), which are composed of neoplastic Schwann cells, fibroblasts, and mast cells. cNFs occur in virtually all persons with NF1, can number in the thousands, and are a major cause of morbidity, including disfigurement, anxiety, itch, and pain (3)(4)(5). Currently, there are no U.S. Food and Drug Administration (FDA)-approved medical therapies to treat cNFs, and symptomatic lesions are primarily removed through surgical procedures such as excision, electrodesiccation, or ablative laser therapy (6)(7)(8).…”