Phakomatosis

Phakomatoses are a group of neurocutaneous disorders characterized by congenital abnormalities of the skin, nervous system, and other organs. Examples include neurofibromatosis, tuberous sclerosis, and Sturge–Weber syndrome. Pathophysiology involves genetic mutations leading to abnormal cell growth and differentiation. Diagnosis relies on clinical findings, neuroimaging, and genetic testing. Management is multidisciplinary, focusing on tumor surveillance, neurological complications, and supportive care; prognosis depends on disease subtype and severity.