Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

Shir Bergson, Daniel Daniely, David Bomze, Janan Mohamad, Kiril Malovitski, Odile Meijers, Valeria Briskin, Ofer Bihari, Natalia Malchin, Shirli Israeli, Jacob Mashiah, Tzipora Falik-Zaccai, Emily Avitan-Hersh, Marina Eskin-Schwartz, Stavit Allon-Shalev, Ofer Sarig, Eli Sprecher, Liat Samuelov*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)1021-1027
Number of pages7
JournalPediatric Dermatology
Volume40
Issue number6
DOIs
StatePublished - 1 Nov 2023

Keywords

  • epidemiology
  • epidermolysis bullosa
  • genetics
  • genodermatoses

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