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.