Louvet S, Léauté-Labreze C, Labbé L, Chateil J F, Taieb A
Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants Bordeaux.
Ann Dermatol Venereol. 1997;124(8):549-51.
Encephalocraniocutaneous lipomatosis (ECL) involving the scalp and cerebellum was observed without asymptomatic expression.
A seven-month-old infant presented with two soft subcutaneous hairless tumors of the scalp without any associated clinical anomaly. Neuroradiology explorations (radiography, CT-scan and MRI) showed a lipoma in the cerebellum linked with a occipital cutaneous lipoma through a bone defect. At the age of 3 years, the child remains healthy.
ECL is a rare neurocutaneous disorder that consists of skin lipomas associated with various cerebral anomalies. ECL may occur as a circumscribed form of the Proteus syndrome, since a few ECL patients have associated manifestations of proteus syndrome as well as localized hypertrophy. However, minor forms of ECL are possible and may be compatible with normal life.
观察到1例累及头皮和小脑的脑颜面皮肤脂肪瘤病（ECL），无无症状表现。
一名7个月大的婴儿头皮出现两个柔软的皮下无毛肿瘤，无任何相关临床异常。神经放射学检查（X线摄影、CT扫描和MRI）显示小脑有一个脂肪瘤，通过骨缺损与枕部皮肤脂肪瘤相连。3岁时，该患儿仍然健康。
ECL是一种罕见的神经皮肤疾病，由与各种脑异常相关的皮肤脂肪瘤组成。ECL可能是变形综合征的一种局限性形式，因为一些ECL患者有变形综合征的相关表现以及局部肥大。然而，ECL的轻微形式是可能的，并且可能与正常生活相容。
