释义 |
phakomatosis
phakomatosis [fak″o-mah-to´sis] any of five hereditary syndromes (neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and von Hippel-Lindau disease, and ataxia-telangiectasia) marked by disseminated hamartomas of the eye, skin, and brain.phac·o·ma·to·sis (fak'ō-mă-tō'sis), A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues; for example, von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis. Patients with phacomatosis may develop pheochromacytomas. Synonym(s): phakomatosis [Van der Hoeve's coinage fr. G. phakos, mother-spot] pha·co·ma·to·sis (fak'ō-mă-tō'sis) A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues (e.g., von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis). Synonym(s): phakomatosis. [Van der Hoeve's coinage fr. G. phakos, mother-spot] |