A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery
Harlequin ichthyosis is the most severe form of autosomal-recessive congenital ichthyoses with a high mortality rate. In affected infants, mutations occur in the ABCA12 gene. The ABCA12 gene produces the proteins that are essential for the natural development of skin cells. In this disease, disrupti...
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doaj-163a2c8a0140430b8010c7afc30f79f42021-09-26T10:32:02ZfasTehran University of Medical Sciencesحیات1735-22152008-188X2019-01-01244335341A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recoverygholamreza faal0fatemeh rabani1Mahdi Hosseini2 Dept. of Pediatric, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran Dept. of Medical Surgical Nursing, School of Nursing and Midwifery, Birjand University of Medical Sciences, Birjand, Iran Dept. of Medical Surgical Nursing, School of Nursing and Midwifery, Birjand University of Medical Sciences, Birjand, Iran Harlequin ichthyosis is the most severe form of autosomal-recessive congenital ichthyoses with a high mortality rate. In affected infants, mutations occur in the ABCA12 gene. The ABCA12 gene produces the proteins that are essential for the natural development of skin cells. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. Recent advances in neonatal care and early administration of treatment have increased the chances of child survival. In this article, we introduced a term female neonate with harlequin ichthyosis, born of a 26-year-old mother, significantly recovered by early treatment using an ointment (composed of Eucerin 88 g, sodium chloride 6 g, and urea 6 g).http://hayat.tums.ac.ir/article-1-2377-en.htmlharlequin ichthyosisautosomal recessive congenital ichthyosishuman abca12 protein |
collection |
DOAJ |
language |
fas |
format |
Article |
sources |
DOAJ |
author |
gholamreza faal fatemeh rabani Mahdi Hosseini |
spellingShingle |
gholamreza faal fatemeh rabani Mahdi Hosseini A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery حیات harlequin ichthyosis autosomal recessive congenital ichthyosis human abca12 protein |
author_facet |
gholamreza faal fatemeh rabani Mahdi Hosseini |
author_sort |
gholamreza faal |
title |
A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery |
title_short |
A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery |
title_full |
A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery |
title_fullStr |
A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery |
title_full_unstemmed |
A case report of harlequin ichthyosis with a favorable outcome: Early treatment and significant recovery |
title_sort |
case report of harlequin ichthyosis with a favorable outcome: early treatment and significant recovery |
publisher |
Tehran University of Medical Sciences |
series |
حیات |
issn |
1735-2215 2008-188X |
publishDate |
2019-01-01 |
description |
Harlequin ichthyosis is the most severe form of autosomal-recessive congenital ichthyoses with a high mortality rate. In affected infants, mutations occur in the ABCA12 gene. The ABCA12 gene produces the proteins that are essential for the natural development of skin cells. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. Recent advances in neonatal care and early administration of treatment have increased the chances of child survival. In this article, we introduced a term female neonate with harlequin ichthyosis, born of a 26-year-old mother, significantly recovered by early treatment using an ointment (composed of Eucerin 88 g, sodium chloride 6 g, and urea 6 g). |
topic |
harlequin ichthyosis autosomal recessive congenital ichthyosis human abca12 protein |
url |
http://hayat.tums.ac.ir/article-1-2377-en.html |
work_keys_str_mv |
AT gholamrezafaal acasereportofharlequinichthyosiswithafavorableoutcomeearlytreatmentandsignificantrecovery AT fatemehrabani acasereportofharlequinichthyosiswithafavorableoutcomeearlytreatmentandsignificantrecovery AT mahdihosseini acasereportofharlequinichthyosiswithafavorableoutcomeearlytreatmentandsignificantrecovery AT gholamrezafaal casereportofharlequinichthyosiswithafavorableoutcomeearlytreatmentandsignificantrecovery AT fatemehrabani casereportofharlequinichthyosiswithafavorableoutcomeearlytreatmentandsignificantrecovery AT mahdihosseini casereportofharlequinichthyosiswithafavorableoutcomeearlytreatmentandsignificantrecovery |
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