Hypotrichosis associated with capillary malformation–arteriovenous malformation syndrome. (11th December 2014)

• Record Type: Journal Article
• Authors: Martín‐Santiago, A.; Knöpfel, N.; del Pozo, J.; Escalas, J.; Bartolomé, B.; Janer, V.; Pascual, M.; Nieto, C.; Hervás, J.A.
• Is Part Of: British journal of dermatology. Volume 172:Number 2(2015:Feb.)
• Page Start: 450
• Page End: 454
• Publication Date: 2014-12-11
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.13287
• Languages: English
• ISSNs: 0007-0963

Abstract

<abstract abstract-type="short" xml:lang="en" id="bjd13287-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> </p> <p> <list id="bjd13287-list-0001" list-type="bullet"> <list-item> <p>Capillary malformation–arteriovenous malformation (CM‐AVM) syndrome is characterized by multifocal small CMs and a risk for fast‐flow malformations.</p> </list-item> <list-item> <p>The disease is caused by mutations in the <italic>RASA1</italic> gene, implicated in vascular development.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> </p> <p> <list id="bjd13287-list-0002" list-type="bullet"> <list-item> <p>Red punctate spots with pale halos are a frequent finding, as recently described.</p> </list-item> <list-item> <p>We report hypotrichosis associated with the CMs of CM‐AVM syndrome, suggesting that <italic>RASA1</italic> gene mutations could be involved in hair follicle proliferation and the cell cycle.</p> </list-item> </list> </p> </abstract>