[Dysmorphic syndrome and vascular dysplasia: an atypical form of type IV Ehlers-Danlos syndrome].
A 29 year old woman was hospitalized for the successive onset of extremely serious vascular accidents: rupture of the gastro-duodenal artery, aneurysm of the posterior tibial artery, discovery of bilateral carotid and vertebral aneurysm with development of a carotid-cavernous fistula. The patient had a very unusual morphotype with dwarfism, white hair and alopecia. Histological investigations failed to reveal atheromatous lesions and by contrast showed involvement of the skin (dermal atrophy) and in the blood vessels fibro-dysplasia of the media. This picture was suggestive of a vascular form of Ehlers-Danlos disease (Sack's syndrome or type IV Ehlers-Danlos disease). This syndrome is characterized by minor skin or joint manifestations replaced by arterial accidents (arterial rupture or development of aneurysms). The etiology is faulty maturation of procollagen III and the diagnosis is based upon fibroblast culture.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000783:Aneurysm / Q000000981:diagnostic imaging; D001158:Arteries; D002340:Carotid Artery Diseases / Q000000981:diagnostic imaging; D002539:Cerebral Arterial Diseases / Q000000981:diagnostic imaging; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007866:Leg / Q000098:blood supply; D011859:Radiography; D012422:Rupture, Spontaneous; D013577:Syndrome; D014652:Vascular Diseases / Q000150:complications*
Syndrome dysmorphique et dysplasie vasculaire: une forme atypique d'Ehlers-Danlos type IV.