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Multifocal Capillary Malformations Due to RASA1 Mutation Misdiagnosed as Cutaneous Mastocytosis

Timo Buhl, MD; Moneef Shoukier, MD; Pawel Grzmil, PhD; Nicole Revencu, MD; Michael P. Schön, MD; Cornelia S. Seitz, MD
Arch Dermatol. 2012;148(11):1334-1335. doi:10.1001/archdermatol.2012.2835.
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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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Figure 1. Several pinkish-red capillary malformations (arrows) on the chest and abdomen of a 9-year-old boy.

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Figure 2. Close-up picture of 2 capillary malformations. Note the typical narrow anemic halo.




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