The coincidence of neurocutaneous melanosis and encephalofacial angiomatosis.
The case of a 21-year-old woman who was affected by both encephalofacial angiomatosis (Sturge-Weber syndrome) and neurocutaneous melanosis is reported. Her signs and symptoms consisted of an interesting overlap of the characteristics of these two neurocutaneous syndromes with glaucoma, hydrocephalus, epilepsy, mental retardation and vascular and melanotic skin lesions observed throughout her course. The clinical diagnosis presented considerable difficulties. The simultaneous occurrence of these two disorders has not been previously reported and this is the first reported case where the cutaneous lesions and their histology, the neuropathology and the clinical features of both disorders is described in one individual.
D000328:Adult; D000798:Angiomatosis / Q000150:complications* / Q000473:pathology; D002525:Cerebellar Cortex / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008577:Meningeal Neoplasms / Q000150:complications / Q000473:pathology; D009508:Nevus, Pigmented / Q000150:complications* / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications* / Q000473:pathology; D013341:Sturge-Weber Syndrome / Q000150:complications* / Q000473:pathology; D014057:Tomography, X-Ray Computed