Impact of Neurofibromatosis Type 1 on Quality of Life Using the Skindex-29 Questionnaire Quality of Life in Nf1

Abstract

Background: Neurofibromatosis type 1 (NF1) is the most common genodermatose which predisposed affected patients to melanic lesions and benign tumors. NF1 is associated with considerable esthetic and functional burden affecting negatively patients’ quality of life (QoL). This study aims to assess the clinical features of NF1 patients and evaluate their impact on QoL. 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. Logistic regression was performed to determine the factors associated with quality of life. Results: Fourty patients fulfilling NF1 National Institute of Health criteria were recruited (40.95 years ± 16.1 SD). The mean total Skindex-29 score was 14 ± 11 (emotion: 20 ±18, symptoms 10±11, functioning 9±10).Woman, NF1 patients with lower educational level or macrocephaly were associated with poorer quality of life scores. Itching, headaches and sleep troubles were identified to negatively influence quality of life of NF1 patients. Conclusion: NF1 considerably influences the psychological well-being of NF1 patients. We observed that female patients, low-educated patients and macrocephalic patients scored higher on the emotional dimension of the skindex-29 and could therefore be more at risk of depression. We also pointed out some “minor symptoms” that negatively impacts NF1 patients QoL such as itching, sleep troubles or headache which could be treated if seek by doctors.