Frieden I J
J Am Acad Dermatol. 1986 Apr;14(4):646-60. doi: 10.1016/s0190-9622(86)70082-0.
Aplasia cutis congenita is a condition in which localized or widespread areas of skin are absent at birth. Several distinct clinical subtypes occur, characterized by the location and pattern of skin absence, the presence of associated malformations, and the mode of inheritance. The disorder is seen most frequently on the scalp, often as a solitary lesion without other anomalies. Scalp lesions can be seen in association with limb reduction defects and in association with epidermal and organoid nevi. Lesions may overlie overt or occult embryologic malformations. A form of aplasia cutis congenita occurs in association with placental infarcts or the in utero death of a twin fetus. The condition may be associated with epidermolysis bullosa, specific teratogens or intrauterine infections, or it may occur in the presence of chromosomal abnormalities, ectodermal dysplasias, or other syndromes of malformation. A classification for aplasia cutis congenita is proposed.
先天性皮肤发育不全是一种出生时局部或广泛皮肤缺失的病症。存在几种不同的临床亚型，其特征为皮肤缺失的部位和形态、相关畸形的存在以及遗传方式。这种病症最常出现在头皮，通常为单个病灶且无其他异常。头皮病灶可见于合并肢体短小缺陷以及合并表皮痣和器官样痣的情况。病灶可能覆盖明显或隐匿的胚胎学畸形。一种先天性皮肤发育不全的形式与胎盘梗死或双胎之一的宫内死亡有关。该病症可能与大疱性表皮松解症、特定致畸物或宫内感染有关，或者可能在存在染色体异常、外胚层发育不良或其他畸形综合征的情况下发生。本文提出了一种先天性皮肤发育不全的分类方法。
