Harlequin ichthyosis: Case report

被引：0

作者：

Salehin, Shahrbanoo ^{[1
]}

Azizimoghadam, Ahmad ^{[1
]}

Abdollahimohammad, Abdolghani ^{[2
]}

Babaeipour-Divshali, Mohammad ^{[2
]}

机构：

[1] Zabol Med Sci Univ, Dept Midwifery, Zabol, Iran

[2] Zabol Med Sci Univ, Dept Nursing, Zabol, Iran

来源：

JOURNAL OF RESEARCH IN MEDICAL SCIENCES | 2013年 / 18卷 / 11期

关键词：

ABCA12 gene mutation; autosomal recessive; skin abnormalities; PRENATAL-DIAGNOSIS;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with HI and adds to the collective knowledge of this rare skin disorder. HI has been linked to mutation in the ABCA12 gene; therefore, genetic counseling and mutation screening of this gene should be considered.

引用

页码：1004 / 1005

页数：2

共 12 条

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