Ward K A, Moss C
Department of Dermatology, Birmingham Children's Hospital, U.K.
Br J Dermatol. 1994 May;130(5):645-9. doi: 10.1111/j.1365-2133.1994.tb13113.x.
A healthy 14-month-old boy had multiple, circular, scar-like depressions on both temples, which had been present since birth. Delivery had been normal, and had not required the use of forceps or other instruments. His mother and one sister had similar, but less obvious, lesions on the temples. The three affected family members had similar facial features, with laterally deficient eyebrows, and a prominent upper lip with down-turned mouth. Additional features in the baby were sparse lower eyelashes, medial epicanthal folds, and skin dimpling on one side of the chin. Focal facial dermal dysplasia (FFDD) denotes a condition in which there are bitemporal, round, scar-like lesions. It is inherited as an autosomal dominant trait with variable penetrance and expressivity, and there are no associated features. Setleis' syndrome is recessively inherited, and is characterized by similar bitemporal defects associated with other dysmorphic features, including deficient eyelashes and a prominent upper lip. This report of dominantly inherited bitemporal dermal defects with characteristic facies supports the idea that FFDD and Setleis' syndrome are a single disorder.
一名健康的14个月大男孩双侧颞部有多个圆形瘢痕样凹陷，自出生就存在。分娩过程正常，未使用产钳或其他器械。他的母亲和一个姐姐在颞部有类似但不太明显的损害。三名受影响的家庭成员有相似的面部特征，眉毛外侧稀疏，上唇突出且嘴角下垂。婴儿的其他特征包括下睫毛稀疏、内眦赘皮以及一侧下巴有皮肤凹陷。局灶性面部皮肤发育异常（FFDD）是指一种存在双侧颞部圆形瘢痕样损害的疾病。它以常染色体显性性状遗传，具有可变的外显率和表现度，且无相关特征。塞特莱斯综合征是隐性遗传，其特征为类似的双侧颞部缺陷并伴有其他畸形特征，包括睫毛缺失和上唇突出。这份关于具有特征性面容的显性遗传双侧颞部皮肤缺陷的报告支持了FFDD和塞特莱斯综合征是单一疾病的观点。
