Neurofibromatosis type 1, from gene mutation to clinical presentation

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about1/3000. The clinical diagnosis NF1 based on the presence two or more followingcriteria: six café au lait spots, >2 neurofibromas any type, freckling in axillary oringuinal region, optic glioma, distinctive osseous lesion such as sphenoid dysplasia thinning oflong bone cortex without pseudoarthrosis, and first degree relative NF1.We report A 7-year-old male multiple spots diagnosed Neurofibromatosisin Kigali-Rwanda by using next-generation sequencing copy number variation analysis, thepatient presented painless nodular skin lesions that developed 4 years earlier. Skinnodules initially appeared anterior chest wall progressed to posterior wallextending axilla region. His medical history his family were unremarkable. To ourknowledge, this case be technology; has numerouscomplications. mutation rate for NF1-gene high; 50% all cases are from newmutations. gene protein product - neurofibromin plays important role tumor genesis asa tumor-suppressor gene.Combining both findings molecular genetic evaluation identify disease-causingmutations paramount confirming diagnosis. Patient care best done multidisciplinarysetting approach proper patient satisfaction better prediction future prognosis.