Involvement of skin and eye occurs frequently in the disorders known as neurocutaneous syndromes or phakomatoses. Recognition of characteristic lesions in the context of related neurologic and systemic abnormalities is often crucial to making the correct diagnosis. Ocular and cutaneous disease in these conditions may be the cause of serious morbidity, leading to blindness or disfigurement, but successful treatment is often possible. This review covers ophthalmologic and dermatologic aspects of neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease, and Sturge-Weber syndrome.
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