The phakomatoses are a group of genetic and acquired disorders characterized by neurologic, cutaneous, and often ocular manifestations, thus commonly referred to as neurocutaneous syndromes. In several of these conditions the underlying genetic pathophysiology has been elucidated, which will continue to play an important role in advancing therapeutic techniques. This article focuses on several examples of such neurocutaneous syndromes, with special attention to the relevant neurosurgical considerations of these patients.
Keywords: Epilepsy; Gorlin syndrome; Hereditary hemorrhagic telangiectasia; Neurocutaneous syndrome; Sturge-Weber syndrome; Tuberous sclerosis complex; subependymal giant cell astrocytoma.
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