A NovelABCA12Mutation in Two Families with Congenital Ichthyosis
نویسندگان
چکیده
منابع مشابه
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mut...
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A case of congenital ichthiosis 1s presented. Histologic pattern and the treatment is discussed.
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Congenital afibrinogenaemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinoge. All screening tests based on end-point conversion of fibrinogen to fibrin are prolonged and all are corrected by the addition of normal plasma to the patients plasma. The condition has been ...
متن کاملAutosomal recessive congenital ichthyosis.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...
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Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...
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ژورنال
عنوان ژورنال: Scientifica
سال: 2012
ISSN: 2090-908X
DOI: 10.6064/2012/649090