4 Interesting Facts of Neurofibromatosis Type 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
- 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
- Shared features with Noonan syndrome include short stature, learning difficulties, and café au lait spots
- Diagnosis is based on clinical criteria; presence of pathogenic variant in NF1 associated with neurofibromatosis 1 may assist in definitive diagnosis