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January 2013

Blue Papules in a Patient With Neurologic Symptoms—Diagnosis

Author Affiliations
 

SECTION EDITOR: MARY S. STONE, MD; ASSISTANT SECTION EDITORS: SOON BAHRAMI, MD; CARRIE ANN R. CUSACK, MD; MOLLY A. HINSHAW, MD; ARNI K. KRISTJANSSON, MD; LORI D. PROK, MD

JAMA Dermatol. 2013;149(1):98. doi:10.1001/2013.jamadermatol.683b

Histopathologic evaluation of several lesions revealed a dermal proliferation of moderately dilated capillaries lined by flattened endothelial cells, consistent with a capillary hemangioma (Figure 2). Other lesions demonstrated large, interconnected spaces containing red blood cells and lined by a single layer of thin endothelial cells, suggestive of a venous malformation (Figure 3). Gene sequencing revealed a mutation in the KRIT protein of the CCM1 gene, which provided additional diagnostic confirmation.

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