Two successive cases of fetal harlequin ichthyosis: A case report

Liang,Qianhong; Xiong,Fu; Liang,Xuankun; Zheng,Dongming; Su,Shuguang; Wen,Yunjie; Wang,Xiaodan

doi:10.3892/etm.2018.6917

January-2019 Volume 17 Issue 1

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January-2019 Volume 17 Issue 1

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Case Report

Two successive cases of fetal harlequin ichthyosis: A case report

Authors:
- Qianhong Liang
- Fu Xiong
- Xuankun Liang
- Dongming Zheng
- Shuguang Su
- Yunjie Wen
- Xiaodan Wang
View Affiliations / Copyright

Affiliations: Ultrasound Department, He Xian Memorial Hospital, Panyu, Guangzhou, Guangdong 511400, P.R. China, Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China, Guangzhou Huayin Medical Laboratory Center, Co., Ltd., Guangzhou, Guangdong 510663, P.R. China
Pages: 449-452
|
Published online on: November 2, 2018

https://doi.org/10.3892/etm.2018.6917
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Abstract

Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. The present study reports a case of a pregnant woman who underwent two successive pregnancies at the ages of 35 and 36, respectively, with both fetuses presenting with HI. The first fetus was delivered alive though succumbed shortly after birth, while the second fetus was stillborn and birthed by induced labor. The fetuses exhibited typical features of fetal HI, including thick, platelike scaling and fissuring, which act as a nidus for infection. The present study is the first to report two cases of fetal HI from successive pregnancies in the same woman. Improved understanding of the genetic basis of HI indicates that genetic screening for candidate gene mutations related to HI, particularly mutations in the adenosine triphosphate binding‑cassette transporter ABCA12, may prove beneficial in prenatal diagnosis. Establishing methods for early diagnosis of fetal HI may reduce the physical and mental distress to parents and relatives.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Two successive cases of fetal harlequin ichthyosis: A case report

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