Ana Sophia Ortiz Robles

The Skin as a Diagnostic Anchor: Complete Mucocutaneous Phenotype of Neurofibromatosis Type 1 in A Young Adult with Severe Dystrophic Cervical Kyphosis

The complete mucocutaneous phenotype in this patient was sufficient to establish the diagnosis of NF1, despite the initial presentation with a rare and severe skeletal complication, which underscores the importance of systematic skin examination and suggests that pigmentary-pilar markers may indicate clinically silent...