Sharma Vishakha M, Ruiz de Luzuriaga Arlene M, Waggoner Darrel, Greenwald Mark, Stein Sarah L
Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA.
Pediatr Dermatol. 2008 Sep-Oct;25(5):548-52. doi: 10.1111/j.1525-1470.2008.00724.x.
Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
小眼畸形伴线性皮肤缺损综合征是一种X连锁显性疾病，其特征为小眼畸形和其他眼部异常，以及通常累及头皮、面部、颈部和上躯干的线性、锯齿状皮肤缺损。其他相关特征包括身材矮小、发育迟缓、先天性心脏缺陷、膈疝、胼胝体发育不全、无脑儿、脑积水和癫痫发作。现已发现小眼畸形伴线性皮肤缺损综合征与X染色体Xp22区域的缺失有关。该区域已发现包含HCCS基因，该基因编码一种全细胞色素c型合成酶，据信在细胞凋亡调节中起关键作用。我们报告一例具有小眼畸形伴线性皮肤缺损综合征典型临床和基因表现的患者，并讨论该疾病的主要特征和管理。
