Happle R, Steijlen P M
Universitäts-Hautklinik Marburg.
Hautarzt. 1993 Jan;44(1):19-22.
Encephalocraniocutaneous lipomatosis is a distinct neurocutaneous syndrome characterized by an extensive fatty tissue nevus of the scalp, protuberances of the cranial bones, lipodermoid of the conjunctiva, multiple intercranial lipomas, and porencephaly. A further case of this multisystem birth defect is reported. The patchy arrangement of lesions that is usually unilateral suggests a mosaic phenotype. The clinical criteria to distinguish this disorder from other mosaic neurocutaneous phenotypes, such as Schimmelpenning syndrome, Proteus syndrome, or Delleman syndrome, are outlined. To explain the origin of this nonhereditary genodermatosis, the concept of a lethal autosomal mutation that survives in a mosaic state is proposed.
脑颅皮肤脂肪瘤病是一种独特的神经皮肤综合征，其特征为头皮广泛的脂肪组织痣、颅骨突出、结膜皮样脂肪瘤、多发性颅内脂肪瘤和脑穿通畸形。本文报告了该多系统出生缺陷的另一病例。病变的斑片状分布通常为单侧性，提示为镶嵌型表型。概述了将该疾病与其他镶嵌型神经皮肤表型（如施密尔彭宁综合征、变形综合征或德勒曼综合征）相区分的临床标准。为解释这种非遗传性基因皮肤病的起源，提出了一种致死性常染色体突变以镶嵌状态存活的概念。
