A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation. Issue 1 (January 2019)

• Record Type: Journal Article
• Authors: Mitchell, Benjamin J.; Rogers, Gary F.; Wood, Benjamin C.
• Is Part Of: Journal of craniofacial surgery. Volume 30:Issue 1(2019)
• Publication Date: 2019-01
• Subjects: Craniofacial nevus sebaceous -- epidermal nevi -- schimmelpenning; Facial bones -- Surgery -- Periodicals; Skull -- Surgery -- Periodicals; Face -- Surgery -- Periodicals; Surgery, Plastic -- Periodicals; 617.52
• DOI: 10.1097/SCS.0000000000004887
• Languages: English
• ISSNs: 1049-2275

Abstract

Abstract : 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.