RASopathies and Neurocutaneous Syndromes

RASopathies are multisystem genetic disorders arising from dysregulation of the RAS–MAPK pathway. They present with developmental anomalies, cutaneous markers, and systemic involvement that evolve across age groups. The most common RASopathy is Neurofibromatosis1 (NF-1), which was previously classified as a neurocutaneous syndrome. Most syndromes are characterized by developmental abnormalities and overlapping clinical features. Neurocutaneous syndromes such as tuberous sclerosis complex (TSC), show overlapping phenotypes with café-au-lait macules, hypomelanotic macules, and hamartomatous growths. Morbidity and prognosis are determined by cardiovascular anomalies, neurocognitive impairment, and malignancy risk. Advances in molecular diagnostics, consensus guidelines, and targeted therapies such as MEK and mTOR inhibitors have refined diagnosis and management.