표피성 모반 증후군(Epidermal Nevus Syndrome)에 동반된 Cutis Verticis Gyrata 1례

Cutis Verticis Gyrata-Mental Deficiency Syndrome: A Patient with Generalized Epidermal Nevus

저자는 18세로 추정되는 여아에서 두피의 심한 굴곡진 변형과 탈모, 주상두증, 양안 격리, 비루관 폐쇄, 낮은 비교 및 주름진 코, 낮게 위치한 주름진 귀, 전신적인 황갈색의 비후성 모반, 측뇌실 확장 및 뇌실주위 백질 연화증과 함께 간질, 심한 정신지체와 발육 장애를 보인 표피성 모반 증후군에 동반된 Cutis Verticsis Gyrata 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

We report a case of cutis vertisis gyrata-mental deficiency syndrome associated with generalized epidermal nevus. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, scsphocephaly and dysmorphic face with scanty scalp hair, hypertelorism, long palpebral fissure, low nasal bridge, hyperplasia of ala nasi, low-set ears with convoluted folds, and partial obstruction of the nasolacrimal ducts. Multiple convoluted folds and furrows on the scalp were extended to eyebrows and nose. Both lateral ventricle with periventricular leukomalacia were dilated markedly and the corpus callosum was hypoplastic on brain MRI. The nature of the yellowish brown colored elevated skin nevi on the whole body was consistent with systemic epidermal nevus by pathological study.