Neurofibromatosis type 1, from gene mutation to clinical presentation

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the followingcriteria: six or more café au lait spots, >2 neurofibromas of any type, freckling in the axillary oringuinal region, optic glioma, a distinctive osseous lesion such as sphenoid dysplasia or thinning oflong 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 Neurofibromatosisin Kigali-Rwanda by using next-generation sequencing and copy number variation analysis, thepatient presented with painless nodular skin lesions that first developed 4 years earlier. Skinnodules initially appeared on the anterior chest wall and progressed to the posterior chest wallextending to the axilla region. His medical history and that of his family were unremarkable. To ourknowledge, this is the first case to be diagnosed using this technology; The disease has numerouscomplications. The mutation rate for NF1-gene is high; 50% of all cases of NF1 are from newmutations. The gene protein product - neurofibromin plays an important role in tumor genesis asa tumor-suppressor gene.Combining both clinical findings and molecular genetic evaluation to identify disease-causingmutations is paramount in confirming the diagnosis. Patient care is best done in a multidisciplinarysetting approach for proper patient satisfaction and better prediction of future prognosis.