Pediatr Dermatol. 2023 Oct 12. doi: 10.1111/pde.15440. Epub ahead of print. PMID: 37827535.
Authors: Shir Bergson 1 2, Daniel Daniely 1, David Bomze 1, Janan Mohamad 1 2, Kiril Malovitski 1 2, Odile Meijers 1, Valeria Briskin 1, Ofer Bihari 1, Natalia Malchin 1, Shirli Israeli 1, Jacob Mashiah 1 2, Tzipora Falik-Zaccai 3 4, Emily Avitan-Hersh 5 6, Marina Eskin-Schwartz 7 8, Stavit Allon-Shalev 6 9, Ofer Sarig 1, Eli Sprecher 1 2, Liat Samuelov 1 2
ackground: 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.
Keywords: epidemiology; epidermolysis bullosa; genetics; genodermatoses