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.
journal_name
Exp Ther Medjournal_title
Experimental and therapeutic medicineauthors
Liang Q,Xiong F,Liang X,Zheng D,Su S,Wen Y,Wang Xdoi
10.3892/etm.2018.6917subject
Has Abstractpub_date
2019-01-01 00:00:00pages
449-452issue
1eissn
1792-0981issn
1792-1015pii
ETM-0-0-6917journal_volume
17pub_type
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