The psychosocial impact of neurofibromatosis type 1: a narrative review

Abstract

Abstract Neurofibromatosis type 1 (NF1) is a rare autosomal dominant (AD) genodermatosis characterized by café-au-lait macules (CALMs), cutaneous and plexiform neurofibromas, and cognitive impairments and neurodevelopmental disorders. As a rare genetic skin disease (RGSD), NF1 is underrepresented in the literature, contributing to persistent misconceptions and stigma. This review aims to discuss the clinical manifestations and psychosocial impact of NF1 to raise awareness of the stigma and unmet emotional needs associated with RGSDs. We conducted a narrative review using PubMed, Web of Science, and Google Scholar, searching for articles that included “Neurofibromatosis type 1,” “psychosocial,” “quality of life,” and “mental health.” Inclusion criteria were broad and included peer-reviewed studies reporting psychosocial or mental health outcomes in individuals with clinically or genetically confirmed NF1. Individuals with NF1 frequently experience emotional distress, distorted body image, and social marginalization. Stigma, influenced by public misconceptions and media portrayals, often leads to withdrawal, diminished self-worth, and impaired social functioning. These psychosocial challenges are associated with increased rates of anxiety, depression, and suicidal ideation. Families may experience hereditary guilt, prognostic uncertainty, and stress regarding reproductive decisions. Chronic pain, executive dysfunction, and physical limitations further contribute to psychological strain, diminished autonomy, and reduced quality of life (QoL). While support networks are available, many patients face significant psychosocial burdens that interfere with their mental health, social integration, and QoL. Greater clinical and public awareness—facilitated by multidisciplinary, psychosocially informed care—is essential to address misconceptions, reduce discrimination, and improve QoL for individuals with NF1.