Epidermal nevus in association with some uncommon manifestations.

Epidermal nevus syndrome (ENS) is a rare condition characterized by congenital epidermal nevi (EN) associated abnormalities of other organs including central nervous system (CNS), skeletal system, eyes, and oral cavity (1). ENS is divided into a group of distinct disorders, based on the associated epidermal nevus and genetic inheritance pattern. Organoid nevus could be seen in some ENS, including Schimmelpenning syndrome, phacomatosis pigmentokeratotica, nevus comedo-nicus syndrome, angora hair nevus syndrome, and Becker nevus syndrome (1). The manifestations of ENS could be due to genetic mosaicism in involved cells, leading to lethal autoso-mal dominant genotype (2). Several genetic defects have been shown to be responsible for ENS; among them, mutations in either FGFR3 (Fibroblast Growth Factor Receptor 3) or PIK3CA genes (phosphatidyl inositol 3-Kinase, Catalytic, Alpha) are seen in about half of EN patients (3). Herein, a girl with EN with various manifestations is presented, in whom several genes have been se-quenced; all of them were normal An 8-month-old girl was referred to the Children's Medical Center, Pediatrics Center of Excellence in Iran, with aplasia cutis congenita on the occipital bone and congenital hemangioma on the occipital and left parietal bone (7 cm×4 cm). Linear epidermal nevus was also evident on the right side of her face and the front of her chest, associated with a macular pigmented congenital nevus on the left scapula. The patient was the first child to consanguine parents with no similar manifestations in the family. She had ambiguous genitalia and mislocated anus at birth; an adhesion band was detected between two labia major anteriorly. There was no male genital organ, while chromosomal analysis of peripheral lympho-cytes revealed normal chromosomal pattern, 46, XX. The occipital aplasia cutis was removed at the first admission, while the microscopic result of patho-logic analysis showed flattened and thin epidermis, edema at dermis, vascular proliferation, and scattered inflammatory cells. Fatty subcutaneous tissue was also seen. No adnexal structure was identified in the center of lesion. These findings were compatible with healed lesion of aplasia cutis. The lesion had irregular , grayish, fine nodularity in the middle portion macroscopically. The adhesion band was also relieved by cystoscopy. Right cheek skin biopsy showed skin tissue with the same dysmorphic folliculosebaceous apparatus in the dermis and hypertrichosis. Organ-oid nevus was considered. Excisional skin biopsy of the infraclavicular pigmented lesion was indicative of congenital compound nevus. Axial computed tomography (CT) scan of the brain without intravenous …