Neurofibromatosis Type 1

4 Interesting Facts of Neurofibromatosis Type 1

  1. Autosomal dominant disorder caused by heterozygous loss of function mutation or deletion in NF1 gene; about 50% of cases are sporadic owing to de novo mutations 
  2. Disease is characterized by café au lait spots, axillary and/or inguinal freckling, Lisch nodules (hematomas of iris), fibromatous skin tumors, short stature, and increased susceptibility to development of benign and malignant tumors 
  3. Shared features with Noonan syndrome include short stature, learning difficulties, and café au lait spots 
  4. Diagnosis is based on clinical criteria; presence of pathogenic variant in NF1 associated with neurofibromatosis 1 may assist in definitive diagnosis

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