Harlequin ichthyosis: A case report and literature review

Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but...

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Autores principales: Shrestha, Abhigan Babu, Biswas, Prince, Shrestha, Sajina, Riyaz, Romana, Nawaz, Muhammad Hassnain, Shrestha, Shumneva, Hossainy, Labiba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723482/
https://www.ncbi.nlm.nih.gov/pubmed/36483862
http://dx.doi.org/10.1002/ccr3.6709
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author Shrestha, Abhigan Babu
Biswas, Prince
Shrestha, Sajina
Riyaz, Romana
Nawaz, Muhammad Hassnain
Shrestha, Shumneva
Hossainy, Labiba
author_facet Shrestha, Abhigan Babu
Biswas, Prince
Shrestha, Sajina
Riyaz, Romana
Nawaz, Muhammad Hassnain
Shrestha, Shumneva
Hossainy, Labiba
author_sort Shrestha, Abhigan Babu
collection PubMed
description Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.
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spelling pubmed-97234822022-12-07 Harlequin ichthyosis: A case report and literature review Shrestha, Abhigan Babu Biswas, Prince Shrestha, Sajina Riyaz, Romana Nawaz, Muhammad Hassnain Shrestha, Shumneva Hossainy, Labiba Clin Case Rep Case Report Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available. John Wiley and Sons Inc. 2022-12-05 /pmc/articles/PMC9723482/ /pubmed/36483862 http://dx.doi.org/10.1002/ccr3.6709 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Shrestha, Abhigan Babu
Biswas, Prince
Shrestha, Sajina
Riyaz, Romana
Nawaz, Muhammad Hassnain
Shrestha, Shumneva
Hossainy, Labiba
Harlequin ichthyosis: A case report and literature review
title Harlequin ichthyosis: A case report and literature review
title_full Harlequin ichthyosis: A case report and literature review
title_fullStr Harlequin ichthyosis: A case report and literature review
title_full_unstemmed Harlequin ichthyosis: A case report and literature review
title_short Harlequin ichthyosis: A case report and literature review
title_sort harlequin ichthyosis: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723482/
https://www.ncbi.nlm.nih.gov/pubmed/36483862
http://dx.doi.org/10.1002/ccr3.6709
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