Phacomatoses are a group of genetically determined multisystemic conditions that mainly affect the skin, eyes and central nervous system. Many phacomatoses present with specific skin manifestations, whose accurate evaluation can significantly contribute to establishing the correct diagnosis. The aim of this article is to review the most common phacomatoses: neurofibromatosis type 1, tuberous sclerosis complex, Sturge-Weber syndrome, and ataxia–telangiectasia. We discuss their epidemiology, etiology, the latest diagnostic criteria and clinical features with particular emphasis on dermatological manifestations.
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