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Hypotrichosis associated with capillary malformation–arteriovenous malformation syndrome
Author(s) -
MartínSantiago A.,
Knöpfel N.,
Pozo J.,
Escalas J.,
Bartolomé B.,
Janer V.,
Pascual M.,
Nieto C.,
Hervás J.A.
Publication year - 2015
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.13287
Subject(s) - hypotrichosis , medicine , arteriovenous malformation , vascular malformation , anatomy , surgery , biology , genetics , gene
Summary Background Capillary malformation–arteriovenous malformation ( CM ‐ AVM ) syndrome is associated with multifocal small CM s and a high risk for high‐flow lesions. It is an autosomal dominant disorder, caused by RASA 1 gene mutations. Recently, two novel clinical features have been identified: numerous small pale halos with central punctate red spots, and naevus anemicus. Objectives To identify the prevalence of the new clinical manifestations in our patients with CM ‐ AVM . The secondary objective was to investigate the presence of other skin lesions. Methods We retrospectively searched the picture database of our department for cases with a clinical diagnosis of CM ‐ AVM , based on the identification of multiple cutaneous CM s and a negative history of epistaxis. We prospectively conducted a clinical and dermoscopic skin examination in all of these patients. Results Seven patients with multiple CM s were found, and only in one case was a cutaneous AVM present. Five patients had red punctate spots surrounded by pale halos on the upper limbs. Two adult patients also showed multiple telangiectasias on the neck and upper trunk. Naevus anemicus was not detected in any patient. A partial or total absence of vellous hair on the surface of CM s was observed in all patients. Conclusions Red punctate spots with pale halos or small telangiectasias are frequent findings in CM ‐ AVM syndrome. Hypotrichosis on the CM s suggests that RASA 1 gene mutations could be involved in the hair follicle proliferation and cell cycle.