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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 one of the most common RASopathies predisposing affected patients to melanic lesions and benign tumors. NF1 is associated with considerable esthetic and functional burden negatively affecting the patient's quality of life (QoL). This study aims to assess the clinical features of NF1 patients and evaluate their impact on QoL. We identified NF1 patients from a public health database of a region in Spain. All patients underwent clinical and ophthalmological evaluation for NF1 features. We measured QoL using the Spanish version of the Skindex-29.

Results

Forty patients fulfilled the NF1 National Institute of Health criteria when we recruited patients. The median age was 42.00 years (IQR 26.5 -53.75). The median total Skindex-29 score

SUBMITTER: Cieza Rivera AM 

PROVIDER: S-EPMC10893671 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature