Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation
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...
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Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being f...
متن کاملArteriovenous malformations and other vascular malformation syndromes.
Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection ...
متن کاملOrbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation.
AIMS Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed. METHODS Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular service...
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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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2018
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2017.10.004