Happle R
Department of Dermatology, University of Marburg, Germany.
Semin Dermatol. 1995 Jun;14(2):111-21. doi: 10.1016/s1085-5629(05)80006-9.
A clinical entity called "the epidermal nevus syndrome" does not exist. Rather, there are various epidermal nevus syndromes that can be distinguished by clinical, histopathological, and genetic criteria. In this review, five distinct epidermal nevus syndromes, recognizable by different types of associated epithelial nevi, are described. The Schimmelpenning syndrome is characterized by a sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva. By contrast, cataracts are a prominent feature of the nevus comedonicus syndrome. The pigmented hairy epidermal nevus syndrome includes Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis. In the Proteus syndrome, the associated epidermal nevus is of a flat, velvety, nonorganoid type. The CHILD syndrome occurs almost exclusively in girls. The associated CHILD nevus shows unique features such as a diffuse form of lateralization, ptychotropism, and microscopic changes of verruciform xanthoma. The five epidermal nevus syndromes differ in their genetic basis. The Schimmelpenning and nevus comedonicus syndromes are most likely nonhereditary traits. By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. The CHILD syndrome is caused by an X-linked dominant mutation exerting a lethal effect on male embryos. A correct diagnosis of these phenotypes is important for both recognition and treatment of associated anomalies as well as for genetic counseling.
所谓“表皮痣综合征”这种临床实体并不存在。确切地说，存在多种表皮痣综合征，可通过临床、组织病理学和遗传学标准加以区分。在本综述中，描述了五种不同的表皮痣综合征，可通过不同类型的相关上皮痣来识别。施密尔彭宁综合征的特征是皮脂腺痣伴有脑异常、缺损以及结膜脂质瘤。相比之下，粉刺样痣综合征的突出特征是白内障。色素性毛表皮痣综合征包括贝克尔痣、同侧乳房发育不全以及脊柱侧凸等骨骼缺陷。在变形综合征中，相关的表皮痣为扁平、天鹅绒样、无器官样类型。 CHILD综合征几乎仅发生于女性。相关的CHILD痣具有独特特征，如弥漫性偏侧化、趋褶性以及疣状黄色瘤的微观变化。这五种表皮痣综合征在遗传基础上有所不同。施密尔彭宁综合征和粉刺样痣综合征很可能是非遗传性特征。相比之下，色素性毛表皮痣综合征和变形综合征可能可用类显性遗传来解释。CHILD综合征由X连锁显性突变引起，对男性胚胎具有致死作用。正确诊断这些表型对于识别和治疗相关异常以及遗传咨询都很重要。
