A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation

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. Address correspondence and reprint requests to Gary F. Rogers, MD, Division of Plastic & Reconstructive Surgery, Children's National Medical Center, 111 Michigan Ave., N.W. Washington, D.C. 20010; E-mail: grogers@childrensnational.org Received 6 March, 2017 Accepted 9 July, 2018 The authors report no conflicts of interest. © 2018 by Mutaz B. Habal, MD.

https://ift.tt/2yST1RX