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

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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Veröffentlicht in:Curēus (Palo Alto, CA) CA), 2023-08, Vol.15 (8)
Hauptverfasser: Al Towijry, Mohammed, Alanazi, Abeer Mohammed M, Eldesoky, Fatma, Alharthi, Yousef H, Albalawi, Ibrahim Abdullah S
Format: Artikel
Sprache:eng
Schlagworte:
Bone marrow
Case reports
Dermatology
Gene therapy
Genetics
Genotype & phenotype
Inflammation
Mutation
Pediatrics
Proteins
Stem cells
Trauma
Wound healing
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Alanazi, Abeer Mohammed M
Eldesoky, Fatma
Alharthi, Yousef H
Albalawi, Ibrahim Abdullah S
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.
doi_str_mv 10.7759/cureus.43206
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subjects Bone marrow
Case reports
Dermatology
Gene therapy
Genetics
Genotype & phenotype
Inflammation
Mutation
Pediatrics
Proteins
Stem cells
Trauma
Wound healing
title Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
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