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局灶性面部皮肤发育异常:双侧颞部病变类似先天性皮肤发育不全。

Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita.

作者信息

Magid M L, Prendiville J S, Esterly N B

机构信息

Department of Pediatrics, Northwestern University Medical School.

出版信息

J Am Acad Dermatol. 1988 May;18(5 Pt 2):1203-7. doi: 10.1016/s0190-9622(88)70125-5.

Abstract

Focal facial dermal dysplasia is the preferred designation for an inherited disorder characterized by congenital scarlike lesions on the temples. Review of the literature reveals a spectrum of associated facial anomalies that cannot be clearly divided into discrete clinical syndromes. To reconcile the apparent genetic diversity of previously reported cases, we postulate autosomal dominant inheritance with incomplete penetrance. An isolated case of a 4 1/2-month-old infant with typical bitemporal markings and otherwise normal facies is described.

摘要

局灶性面部皮肤发育异常是一种遗传性疾病的首选名称,其特征为颞部先天性瘢痕样损害。文献回顾显示一系列相关的面部异常情况,无法明确分为不同的临床综合征。为协调先前报道病例中明显的遗传多样性,我们推测为常染色体显性遗传且外显不全。本文描述了一例4个半月大的婴儿,有典型的双侧颞部皮损,面部其他部位正常。

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