Muñoz Daniel, Jodar Mercè, Valls Laia, Fornieles-Deu Albert, Castellanos Elisabeth, Blanco Ignacio
Clinical and Health Psychology Department, Universitat Autònoma de Barcelona (UAB), Bellaterra, Barcelona, Spain.
Clinical Genomics Group, CARE Program, Institut d'investigació Germans Trias i Pujol (IGTP), Badalona, Barcelona, Spain.
Orphanet J Rare Dis. 2025 Jun 6;20(1):284. doi: 10.1186/s13023-025-03729-w.
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.
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.
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.
1型神经纤维瘤病是一种常染色体显性遗传疾病。其临床特征之一是出现毁容性神经纤维瘤。大多数成年1型神经纤维瘤病患者根据其皮肤相关临床症状的严重程度会出现可见的神经纤维瘤，这可能会影响他们的身体形象，而身体形象又会影响心理援助和社会支持。本研究探讨了1型神经纤维瘤病患者的身体形象、对神经纤维瘤外观的负面认知以及皮肤严重程度；评估了其与生活质量的关联；以及社会支持和心理援助的作用。
205名年龄在16至74岁之间的1型神经纤维瘤病患者被纳入研究。他们对有关生活质量、身体形象和其他社会人口学数据的问卷做出了回应。使用相关性分析以及简单和多元回归分析来评估变量之间的关系。结果表明，如果1型神经纤维瘤病患者担心其神经纤维瘤的情况（B = 4.544；p < 0.001）以及如果他们有严重的皮肤状况（B = 4.262；p < 0.001），身体形象问题会增加。尽管如此，统计分析表明，只有身体形象受损会使生活质量降低0.605（p < 0.001），而皮肤严重程度和对神经纤维瘤外观的负面认知并没有明显关联。有身体形象受损的患者更有可能寻求心理援助（ρ = 0.218；p < 0.01），但他们报告获得社会支持的可能性较小。结果还表明，当1型神经纤维瘤病患者获得社会支持（ρ = -0.210，p < 0.01）或他们接受心理援助（ρ = -0.238；p < 0.001）时，他们的生活质量较低。
身体形象问题而非皮肤严重程度，是检测这些患者生活质量受损的关键特征。当医疗保健专业人员检测到身体形象受损时，他们与患者合作并提供或转介心理干预措施至关重要。这种方法有助于改善社会支持，使患者能够从其专业和个人环境中受益。
