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Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation–Arteriovenous Malformation Syndrome
Author(s) -
Kim Changhyun,
Ko Christine J.,
Baker Kenneth E.,
Antaya Richard J.
Publication year - 2013
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.12188
Subject(s) - medicine , arteriovenous malformation , vascular malformation , arteriovenous fistula , pathology , anatomy , radiology
Capillary malformation–arteriovenous malformation ( CM ‐ AVM ) syndrome is an autosomal dominant disorder caused by mutations in RASA 1 . Multifocal, small, round‐to‐oval, pinkish‐to‐red cutaneous capillary malformations are seen in more than 90% of people with RASA 1 mutations. These RASA 1 ‐associated cutaneous capillary malformations ( CM s) can accompany internal or cutaneous arteriovenous malformation ( AVM ) or arteriovenous fistula to constitute CM ‐ AVM syndrome. The cutaneous capillary malformations in CM ‐ AVM syndrome are unusual in that some lesions have high‐flow characteristics (according to Doppler or a white halo). We describe the histopathologic and corresponding ultrasound and Doppler findings in a CM from a patient with clinical CM ‐ AVM syndrome and show that an arterial component is not present in the dermis or the most superficial portions of the subcutaneous fat but that there is ultrasound evidence that an AVM resides in the underlying adipose tissue.