Neurofibromatosis type 1, from gene mutation to clinical presentation

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any type, freckling in the axillary or inguinal region, optic glioma, a distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis, and a first degree relative with NF1. We report A 7-year-old male with multiple café au lait spots diagnosed with Neurofibromatosis in Kigali-Rwanda by using next-generation sequencing and copy number variation analysis, the patient presented with painless nodular skin lesions that first developed 4 years earlier. Skin nodules initially appeared on the anterior chest wall and progressed to the posterior chest wall extending to the axilla region. His medical history and that of his family were unremarkable. To our knowledge, this is the first case to be diagnosed using this technology; The disease has numerous complications. The mutation rate for NF1-gene is high; 50% of all cases of NF1 are from new mutations. The gene protein product - neurofibromin plays an important role in tumor genesis as a tumor-suppressor gene. Combining both clinical findings and molecular genetic evaluation to identify disease-causing mutations is paramount in confirming the diagnosis. Patient care is best done in a multidisciplinary setting approach for proper patient satisfaction and better prediction of future prognosis.

Keywords

• neurofibromatosis
• gene mutation
• clinical presentation
• café au lait spots
• neurofibromas
• case report