小眼畸形并线性皮肤缺损综合征：精确诊断指导预后。

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.

机构信息

Department of Dermatology, University of Florida, Gainesville, Florida.

Department of Pediatrics/Genetics & Metabolism, University of Florida, Gainesville, Florida.

出版信息

Pediatr Dermatol. 2020 Jan;37(1):217-218. doi: 10.1111/pde.13946. Epub 2019 Aug 2.

DOI:10.1111/pde.13946

PMID:31373408

Abstract

Microphthalmia and linear skin defects syndrome (MLS) is a rare X-linked dominant disorder characterized by microphthalmia and linear atrophic plaques of the face and neck. The diagnosis of MLS can be challenging secondary to both its rarity and to clinical overlap with Goltz syndrome. Whereas the skin lesions of MLS are more likely to improve in appearance with age, the lesions of Goltz are typically persistent.

摘要

小眼畸形和线状皮肤缺损综合征（MLS）是一种罕见的 X 连锁显性遗传病，其特征为小眼畸形和面部及颈部的线状萎缩性斑块。由于该病罕见且与 Goltz 综合征存在临床重叠，因此 MLS 的诊断具有一定挑战性。虽然 MLS 的皮肤损害随着年龄的增长可能会改善外观，但 Goltz 综合征的皮肤损害通常持续存在。