Abstract
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.
Original language | English |
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Pages (from-to) | 1021-1027 |
Number of pages | 7 |
Journal | Pediatric Dermatology |
Volume | 40 |
Issue number | 6 |
DOIs | |
State | Published - 1 Nov 2023 |
Bibliographical note
Publisher Copyright:© 2023 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.
Funding
We thank the patients and their families for their collaboration. This study was supported in part by a generous donation of the Ram family and by research grants of the Israel Science Foundation (2830/20) and Ministry of Science and Technology of Israel 3‐17373.
Funders | Funder number |
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Israel Science Foundation | 2830/20 |
Ministry of science and technology, Israel | 3‐17373 |
Keywords
- epidemiology
- epidermolysis bullosa
- genetics
- genodermatoses