释义 |
neurocutaneous syndrome neu·ro·cu·ta·ne·ous syn·dromea general term for a heterogenous group of disorders that have in common that central nervous system and skin lesions coexist; many are hereditary, including Sturge-Weber syndrome (autosomal dominant inheritance) (q.v.), Cockayne syndrome (autosomal recessive inheritance) (q.v.), and Fabry disease (X-linked inheritance) (q.v.).neurocutaneous syndrome Phakomatosis Any multisystem disease characterized by involvement of the brain, skin, eyes, etc Examples Neurofibromatosis type I–von Recklinghausen disease, tuberous sclerosis, von Hippel-Lindau disease–all AD, Sturge-Weber syndrome– no known hereditary pattern, and ataxia-telangiectasia. See Tuberous sclerosis. neu·ro·cu·ta·ne·ous syn·drome (nūrō-kyū-tānē-ŭs sindrōm) Heterogenous disorders with finding that central nervous system and skin lesions coexist. |