Orphanet J Rare Dis. 2025 Jun 6;20(1):284. doi: 10.1186/s13023-025-03729-w.
ABSTRACT
BACKGROUND: Neurofibromatosis type 1 is a genetic disease with an autosomal dominant pattern. One of its clinical features is the presence of disfiguring neurofibromas. Most adults with Neurofibromatosis type 1 have visible neurofibromas depending on the severity of their skin related clinic that can affect their body image, and body image influencing psychological assistance and social support. This research explored Body image, the negative perception of the appearance of neurofibromas and skin severity in Neurofibromatosis type 1 patients; assessed its association with quality of life; and the role of social support and psychological assistance.
RESULTS: Two hundred five patients with Neurofibromatosis type 1 (16-74 years) were included in the study. They responded to questionnaires about their quality of life, body image and other sociodemographic data. Correlations and simple and multiple regressions were used to assess the relationships between variables. The results showed that body image problems increased if Neurofibromatosis type 1 patients were concerned about the aspects of their neurofibromas (B = 4.544; p < 0.001) and if they had severe skin conditions (B = 4.262; p < .001). Despite this, statistical analysis showed that only body image impairments reduced quality of life by 0.605 (p < 0.001), while skin severity and the negative perception of the appearance of neurofibromas were not clearly related. Patients with body image impairments are more likely to seek psychological assistance (ρ = 0.218; p < 0.01), but they are less likely to report having social support. The results also showed that when patients with Neurofibromatosis type 1 retrieved they have social support (ρ = -0.210, p < 0.01) or they inform doing psychological assistance (ρ = -0.238; p < 0.001), they have lower quality of life.
CONCLUSION: Body image concerns, rather than skin severity, are a key feature for detecting quality of life impairments in these patients. When healthcare professionals detect body image impairments, it is crucial for them to collaborate with patients and either provide or refer them to psychological interventions. This approach helps improve social support, enabling patients to benefit from both their professional and personal environments.
PMID:40481533 | DOI:10.1186/s13023-025-03729-w
