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).
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.
Buhl T, Shoukier M, Grzmil P, Revencu N, Schön MP, Seitz CS. Multifocal Capillary Malformations Due to RASA1 Mutation Misdiagnosed as Cutaneous Mastocytosis. Arch Dermatol. 2012;148(11):1334-1335. doi:10.1001/archdermatol.2012.2835