Harlequin ichthyosis: Case report

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...

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Autores principales: Salehin, Shahrbanoo, Azizimoghadam, Ahmad, Abdollahimohammad, Abdolghani, Babaeipour-Divshali, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906774/
https://www.ncbi.nlm.nih.gov/pubmed/24520234
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author Salehin, Shahrbanoo
Azizimoghadam, Ahmad
Abdollahimohammad, Abdolghani
Babaeipour-Divshali, Mohammad
author_facet Salehin, Shahrbanoo
Azizimoghadam, Ahmad
Abdollahimohammad, Abdolghani
Babaeipour-Divshali, Mohammad
author_sort Salehin, Shahrbanoo
collection PubMed
description 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.
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spelling pubmed-39067742014-02-11 Harlequin ichthyosis: Case report Salehin, Shahrbanoo Azizimoghadam, Ahmad Abdollahimohammad, Abdolghani Babaeipour-Divshali, Mohammad J Res Med Sci Case Report 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. Medknow Publications & Media Pvt Ltd 2013-11 /pmc/articles/PMC3906774/ /pubmed/24520234 Text en Copyright: © Journal of Research in Medical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Salehin, Shahrbanoo
Azizimoghadam, Ahmad
Abdollahimohammad, Abdolghani
Babaeipour-Divshali, Mohammad
Harlequin ichthyosis: Case report
title Harlequin ichthyosis: Case report
title_full Harlequin ichthyosis: Case report
title_fullStr Harlequin ichthyosis: Case report
title_full_unstemmed Harlequin ichthyosis: Case report
title_short Harlequin ichthyosis: Case report
title_sort harlequin ichthyosis: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906774/
https://www.ncbi.nlm.nih.gov/pubmed/24520234
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