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丑角鱼鳞病:1例罕见病例。

Harlequin ichthyosis: A rare case.

作者信息

Shruthi Belide, Nilgar B R, Dalal Anita, Limbani Nehaben

机构信息

K.L.E. University's Jawaharlal Nehru Medical College, Department of Obstetrics and Gynecology, Belagavi, India.

出版信息

Turk J Obstet Gynecol. 2017 Jun;14(2):138-140. doi: 10.4274/tjod.63004. Epub 2017 Jun 15.

Abstract

Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.

摘要

丑角鱼鳞病是一种非常罕见的病症,会影响新生儿的皮肤。它与皮肤屏障功能差有关,导致脱水,使新生儿容易感染。它是由三磷酸腺苷结合盒A12基因突变引起的,以常染色体隐性疾病的形式遗传。这些病例的预后非常差。在此,我们报告这样一例罕见病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b72e/5558415/225ea29ddf75/TJOD-14-138-g1.jpg

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