Atallah Isis*, Ana M. Cieza Rivera, Carlos Lobato Fuertes, Tania Fernández-Villa, Vicente Martín
Background: Neurofibromatosis type 1 (NF1), the most common genodermatosis, predisposes affected patients to melanocytic lesions and benign tumors. NF1 is associated with a considerable esthetic and functional burden that may negatively affect patients’ quality of life (QoL).
Aim: This study aims to assess the clinical features of NF1 patients and evaluate their impact on QoL.
Methods: NF1 patients were identified from a public health database of a region in Spain. All patients underwent clinical and ophthalmological evaluation for NF1 features. QoL was measured with the Spanish version of the Skindex- 29 questionnaire. Logistic regression was performed to identify possible determinants of quality of life.
Results: 40 patients fulfilling NF1 NIH diagnostic criteria were recruited (age 40.95 years ± 16.1 SD). The mean total Skindex-29 score was 14 ± 11 (emotions: 20 ± 18, symptoms 10 ± 11, functioning 9 ± 10). Women and NF1 patients with lower educational levels were associated with poorer quality of life scores. Itching, headaches, and sleep troubles were identified to negatively influence the quality of life of NF1 patients.
Conclusion: NF1 considerably influences the psychological well-being of NF1 patients. Some of those symptoms might be amenable to a therapeutic approach, potentially improving NF1 patients’ quality of life if seeked.
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