TY - JOUR
T1 - Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
AU - Bergson, Shir
AU - Daniely, Daniel
AU - Bomze, David
AU - Mohamad, Janan
AU - Malovitski, Kiril
AU - Meijers, Odile
AU - Briskin, Valeria
AU - Bihari, Ofer
AU - Malchin, Natalia
AU - Israeli, Shirli
AU - Mashiah, Jacob
AU - Falik-Zaccai, Tzipora
AU - Avitan-Hersh, Emily
AU - Eskin-Schwartz, Marina
AU - Allon-Shalev, Stavit
AU - Sarig, Ofer
AU - Sprecher, Eli
AU - Samuelov, Liat
N1 - Publisher Copyright:
© 2023 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.
PY - 2023/11/1
Y1 - 2023/11/1
N2 - Background: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal-epidermal junction, EB is sub-classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB-associated genes reported to date. Methods: We ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds. Results: The cohort was comprised of EBS (64%, 97/151), DEB (21%, 31/151), JEB (12%, 18/151), and KEB (3%, 5/151). KRT14 and KRT5 variants were most common among EBS patients with 43% (42/97) and 46% (45/97) of EBS patients carrying mutations in either of these two genes, respectively. Truncal involvement was more common in KRT14-associated EBS as compared to EBS due to KRT5 mutations (p <.05). Mutations in COL17A1 and laminin 332-encoding genes were identified in 55% (10/18) and 45% (8/18) of JEB patients. Scarring alopecia, caries, and EB nevi were most common among JEB patients carrying COL17A1 mutations as compared to laminin 332-associated JEB (p <.05). Abnormal nails were evident in most DEB and JEB patients while poikiloderma was exclusively observed in KEB (p <.001). Conclusions: EB patients of Middle Eastern origin were found to feature specific phenotype–genotype correlations of relevance to the diagnosis and genetic counseling of patients in this region.
AB - Background: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal-epidermal junction, EB is sub-classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB-associated genes reported to date. Methods: We ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds. Results: The cohort was comprised of EBS (64%, 97/151), DEB (21%, 31/151), JEB (12%, 18/151), and KEB (3%, 5/151). KRT14 and KRT5 variants were most common among EBS patients with 43% (42/97) and 46% (45/97) of EBS patients carrying mutations in either of these two genes, respectively. Truncal involvement was more common in KRT14-associated EBS as compared to EBS due to KRT5 mutations (p <.05). Mutations in COL17A1 and laminin 332-encoding genes were identified in 55% (10/18) and 45% (8/18) of JEB patients. Scarring alopecia, caries, and EB nevi were most common among JEB patients carrying COL17A1 mutations as compared to laminin 332-associated JEB (p <.05). Abnormal nails were evident in most DEB and JEB patients while poikiloderma was exclusively observed in KEB (p <.001). Conclusions: EB patients of Middle Eastern origin were found to feature specific phenotype–genotype correlations of relevance to the diagnosis and genetic counseling of patients in this region.
KW - epidemiology
KW - epidermolysis bullosa
KW - genetics
KW - genodermatoses
UR - https://www.scopus.com/pages/publications/85173798886
U2 - 10.1111/pde.15440
DO - 10.1111/pde.15440
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C2 - 37827535
AN - SCOPUS:85173798886
SN - 0736-8046
VL - 40
SP - 1021
EP - 1027
JO - Pediatric Dermatology
JF - Pediatric Dermatology
IS - 6
ER -