Neurocutaneous syndromes.
The neurocutaneous syndromes are a diverse group of diseases characterized by widespread abnormalities in structures of ectodermal origin, including the skin, eye, and central and peripheral nervous systems. These syndromes are particularly interesting to the clinician because they often present with cutaneous signs at birth or very early in life. These skin markers may be clues to widespread abnormality that may later develop in the nervous system and other areas of the body, making early diagnosis from careful assessment of cutaneous signs a particularly challenging task. Six of the most common of these syndromes are reviewed.
D001260:Ataxia Telangiectasia / Q000175:diagnosis; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis*; D009456:Neurofibromatosis 1 / Q000175:diagnosis; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis*; D013341:Sturge-Weber Syndrome / Q000175:diagnosis; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis; D014402:Tuberous Sclerosis / Q000175:diagnosis