Multiple lentigines in RASA1-associated capillary malformation-arteriovenous malformation syndrome
نویسندگان
چکیده
منابع مشابه
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Capillary malformation (CM), or "port-wine stain," is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic s...
متن کاملCapillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.
Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with e...
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Two cases of patients with multiple peripheral aneurysms are reported ; four aneurysms arising from the left callosomarginal artery feeding an arterivenous malformation (AVM) in a 51year-old female and two aneurysms from the left posterior inferior cerebellar artery not associated with AVM in a 53-year-old female. In the former case , the AVM was partly thrombosed and the most distal aneurysm w...
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Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews ...
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A case of cerebellar arteriovenous malformation associated with three aneurysms of the posteriar inferior cerebellar artery is reported. Theories conceming the aetiology of the combination of these lesions are reviewed and the problem of which
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ژورنال
عنوان ژورنال: JAAD Case Reports
سال: 2021
ISSN: 2352-5126
DOI: 10.1016/j.jdcr.2020.10.022