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A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation
Benjamin J Mitchell1, Gary F Rogers2, Benjamin C Wood2
1Georgetown University School of Medicine.
Abstract:
Schimmelpenning syndrome is a neurocutaneous disorder characterized by craniofacial nevus sebaceus that fall along embryonic cutaneous lines and tend to be associated with neurological, ocular, skeletal, and vascular abnormalities. We report a child with extensive nevus sebaceus of the scalp, face, and thorax and other unusual physical findings who was found to have a mosaic mutation of KRAS c.35G>A p.12D pathognomonic of Schimmelpenning syndrome.
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