Nov 2012

Multifocal Capillary Malformations Due to RASA1 Mutation Misdiagnosed as Cutaneous Mastocytosis

Author Affiliations

Author Affiliations: Department of Dermatology, Venereology and Allergology (Drs Buhl, Schön, and Seitz) and Institute of Human Genetics (Dr Shoukier and Grzmil), Georg-August-University Göttingen, Göttingen, Germany; Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Cracow, Poland (Dr Grzmil); Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium (Dr Revencu).

Arch Dermatol. 2012;148(11):1334-1335. doi:10.1001/archdermatol.2012.2835

Less than a decade ago, the occurrence of multifocal small capillary malformations (CMs) on the skin with autosomal dominant inheritance was linked to RASA1 mutations.1 Since these CMs are, in about 30% of cases, associated with intracranial and peripheral fast-flow arteriovenous malformations and fistulas as well as Parkes Weber syndrome, the term capillary malformation–arteriovenous malformation (CM-AVM) was established.1,2 We report the instructive case of a patient with CM-AVM whose skin lesions were misdiagnosed as mastocytosis for several years.

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