Cutaneous neurofibromas: patients\u2019 medical burden, current management and therapeutic expectations: results from an online European patient community survey

Marlene Guiraud,Anne-Marie Schmitt,Athmane Bouroubi,Isabelle Rauly-Lestienne,Arnaud Bocquet,Roxane Beauchamp,Pierre Wolkenstein,Jean-Marc Grégoire,Ignacio Blanco

doi:10.1186/s13023-019-1265-4

Abstract

BackgroundNeurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden.The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and feelings about cNF current management (only laser and surgery are currently available), and to highlight their expectations of new therapeutic modalities.ResultsOne hundred seventy patients from 4 European countries took part in the study, 65% (n = 110) were women and mean age was 39 years old. 96% (n = 164) of respondents have cNF on visible parts of the body and the survey confirmed that total number of cNF and visibility increase with age.Patients reported that cNF mainly impacts everyday mood, general daily life and social life. The visibility of cNF had a higher impact than their number.92% (n = 156) of patients have a regular and multidisciplinary medical follow-up. The dermatologist is one of the most consulted healthcare professionals.76% (n = 130) of respondents have treated their cNF: 65% (n = 111) had surgery and 38% (n = 64) had multiple laser sessions. Frequency of operations and regrowth of cNF were the two most unsatisfactory aspects with both treatments for patients. Indeed, after removal, new cNF appear in more than 75% (n = 128) of cases.As a future treatment, patients expected a topical (30%, n = 51) or oral medication (29%, n = 50). Around 2 out of 3 patients would agree to take it at least once a day or more for life but they would like a well-tolerated treatment.According to patients, the most important effectiveness criteria of a new treatment are to block cNF growth and reduce their number. 70% (n = 119) of patients would consider a future treatment moderately effective to very effective if it could clear 30% of cNF.ConclusionsThis first cNF European patient community survey confirmed that the visible stigma and unaesthetic aspect of cNF have an important impact on patients’ quality of life. The survey highlighted that patients were not entirely satisfied with the actual surgery and laser treatments and revealed their clear and realistic expectations for future treatment of cNF.

Highlights

Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden
Plexiform neurofibromas are congenital deep tumours involving nerve plexus below the dermis with a risk of sarcomatous transformation; intraneural neurofibromas grow in the peripheral nerves; subcutaneous neurofibromas occur along the peripheral nerves beneath the skin; and cutaneous neurofibromas ([cNF] called dermal neurofibromas) are benign tumours that grow from small nerves present in and/or just under the skin
Patients’ profile A total of 219 questionnaires were completed: 28 were excluded due to the inclusion criteria not being met (8 patients were not affected by Neurofibromatosis type 1 (NF1), 19 did not have cNF and 1 patient was younger than 18 years old (y/o)) and 21 did not pass the quality control leaving 170 questionnaires that were completed and selected for the study analysis

Summary

Introduction

Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. Plexiform neurofibromas are congenital deep tumours involving nerve plexus below the dermis with a risk of sarcomatous transformation; intraneural neurofibromas grow in the peripheral nerves; subcutaneous neurofibromas occur along the peripheral nerves beneath the skin; and cutaneous neurofibromas ([cNF] called dermal neurofibromas) are benign tumours that grow from small nerves present in and/or just under the skin. They look like well-defined cutaneous lesions, small bumps typically beginning around the time of puberty [6, 7]. They look like well-defined cutaneous lesions, small bumps typically beginning around the time of puberty [6, 7]. cNF affect 99% of NF1 patients, starting from puberty and increasing in size and number with age [1, 8]

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