Congenital heart disease in harlequin ichthyosis: Case series

Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body. It is a lethal disease, but patients can rarely survive for several months or years with treatment....

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Autores principales: Verma, Bhupendra, Abhinay, Abhishek, Mohan, Anand, Singh, Amrita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482787/
https://www.ncbi.nlm.nih.gov/pubmed/31041289
http://dx.doi.org/10.4103/jfmpc.jfmpc_61_19
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author Verma, Bhupendra
Abhinay, Abhishek
Mohan, Anand
Singh, Amrita
author_facet Verma, Bhupendra
Abhinay, Abhishek
Mohan, Anand
Singh, Amrita
author_sort Verma, Bhupendra
collection PubMed
description Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body. It is a lethal disease, but patients can rarely survive for several months or years with treatment. We present here seven cases of HI, where cardiac evaluation was done by echocardiography. To our knowledge, this is the first study to report associated cardiac abnormalities in such patients.
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spelling pubmed-64827872019-04-30 Congenital heart disease in harlequin ichthyosis: Case series Verma, Bhupendra Abhinay, Abhishek Mohan, Anand Singh, Amrita J Family Med Prim Care Case Report Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body. It is a lethal disease, but patients can rarely survive for several months or years with treatment. We present here seven cases of HI, where cardiac evaluation was done by echocardiography. To our knowledge, this is the first study to report associated cardiac abnormalities in such patients. Wolters Kluwer - Medknow 2019-03 /pmc/articles/PMC6482787/ /pubmed/31041289 http://dx.doi.org/10.4103/jfmpc.jfmpc_61_19 Text en Copyright: © 2019 Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Verma, Bhupendra
Abhinay, Abhishek
Mohan, Anand
Singh, Amrita
Congenital heart disease in harlequin ichthyosis: Case series
title Congenital heart disease in harlequin ichthyosis: Case series
title_full Congenital heart disease in harlequin ichthyosis: Case series
title_fullStr Congenital heart disease in harlequin ichthyosis: Case series
title_full_unstemmed Congenital heart disease in harlequin ichthyosis: Case series
title_short Congenital heart disease in harlequin ichthyosis: Case series
title_sort congenital heart disease in harlequin ichthyosis: case series
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482787/
https://www.ncbi.nlm.nih.gov/pubmed/31041289
http://dx.doi.org/10.4103/jfmpc.jfmpc_61_19
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