International Journal of Medical Science and Clinical Research Studies
The Skin as a Diagnostic Anchor: Complete Mucocutaneous Phenotype of Neurofibromatosis Type 1 in A Young Adult with Severe Dystrophic Cervical Kyphosis
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor-predisposition syndrome caused by pathogenic variants in the NF1 gene and characterized by significant phenotypic variability. Pigmentary and cutaneous lesions, such as café-au-lait macules, skinfold freckling, and dermal or plexiform neurofibromas, occur in nearly all affected individuals and form the core diagnostic criteria. These features often provide the earliest indication of NF1 before neurological, skeletal, or ophthalmological complications. Co …