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RASA1 mutation in a family with capillary malformation–arteriovenous malformation syndrome: A discussion of the differential diagnosis
Author(s) -
Edwards Lisa R.,
Blechman Adam B.,
Zlotoff Barrett J.
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13332
Subject(s) - medicine , arteriovenous malformation , mutation , differential diagnosis , vascular malformation , pediatrics , genetics , surgery , pathology , gene , biology
We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1 , diagnostic of capillary malformation–arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation–arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast‐flow lesions, and genetic analysis.