Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia

We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure si...

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Autores principales: Al Towijry, Mohammed, Alanazi, Abeer Mohammed M, Eldesoky, Fatma, Alharthi, Yousef H, Albalawi, Ibrahim Abdullah S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487254/
https://www.ncbi.nlm.nih.gov/pubmed/37692655
http://dx.doi.org/10.7759/cureus.43206
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author Al Towijry, Mohammed
Alanazi, Abeer Mohammed M
Eldesoky, Fatma
Alharthi, Yousef H
Albalawi, Ibrahim Abdullah S
author_facet Al Towijry, Mohammed
Alanazi, Abeer Mohammed M
Eldesoky, Fatma
Alharthi, Yousef H
Albalawi, Ibrahim Abdullah S
author_sort Al Towijry, Mohammed
collection PubMed
description We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure site, with remission and aggravation, but she had no mucosal lesions or nail affection. The patient was diagnosed with epidermolysis bullosa simplex.
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spelling pubmed-104872542023-09-09 Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia Al Towijry, Mohammed Alanazi, Abeer Mohammed M Eldesoky, Fatma Alharthi, Yousef H Albalawi, Ibrahim Abdullah S Cureus Dermatology We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure site, with remission and aggravation, but she had no mucosal lesions or nail affection. The patient was diagnosed with epidermolysis bullosa simplex. Cureus 2023-08-09 /pmc/articles/PMC10487254/ /pubmed/37692655 http://dx.doi.org/10.7759/cureus.43206 Text en Copyright © 2023, Al Towijry et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Al Towijry, Mohammed
Alanazi, Abeer Mohammed M
Eldesoky, Fatma
Alharthi, Yousef H
Albalawi, Ibrahim Abdullah S
Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
title Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
title_full Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
title_fullStr Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
title_full_unstemmed Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
title_short Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
title_sort epidermolysis bullosa simplex with dystonin gene mutation: first reported case in saudi arabia
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487254/
https://www.ncbi.nlm.nih.gov/pubmed/37692655
http://dx.doi.org/10.7759/cureus.43206
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