[Hemihypertrophy, nevus sebaceous, multiple bone cysts and cerebroretinal angiomatosis: a complex phakomatosis].
Report on a girl, who died at the age of 6 1/2 years having exhibited different dysplasias which are characteristic features of several phakomatoses: congenital cutaneous pigmentations, fibrolipoma of the scalp, hypertrophy of the right leg, multiple cysts of the long bones (fibrous dysplasia), and an aneurysma racemosum of the retina and mid-brain (syndrome of Bonnet-Blanc-Dechaume).
D000798:Angiomatosis / Q000473:pathology; D001845:Bone Cysts / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D001932:Brain Neoplasms / Q000473:pathology; D002533:Cerebral Angiography; D002648:Child; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000473:pathology; D005451:Fluorescein Angiography; D006258:Head and Neck Neoplasms / Q000473:pathology; D006801:Humans; D006984:Hypertrophy; D008067:Lipoma / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D009508:Nevus, Pigmented / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology; D012164:Retinal Diseases / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D013577:Syndrome
Hemihypertrophie, Naevus sebaceus, multiple Knochenzysten und zerebroretinale Angiomatose: eine komplexe Phakomatose