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CASE REPORT article

Front. Med.
Sec. Dermatology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1418239

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

Provisionally accepted
Yulia Y. Kotalevskaya Yulia Y. Kotalevskaya 1,2*Vadim Stepanov Vadim Stepanov 2
  • 1 Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia
  • 2 Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Tomsk Oblast, Russia

The final, formatted version of the article will be published soon.

    Objective. Epidermolysis bullosa simplex (EBS) is a common, well-characterized type of epidermolysis bullosa. However, some rare syndromic EBS phenotypes are not well described. The accumulation of clinical descriptions of patients with syndromic subtypes of EBS is important for understanding the natural history of the disease and assessing genotype-phenotype correlations. Case summary. We present the series of case reports of the syndromic subtype of EBS associated with mutations in the KLHL24 gene in 7 patients from 4 unrelated families. The clinical features of this rare phenotype in children and adult patients are described in detail. We revealed in two families pathogenic variant c.1A>G (p.Met1?) in KLHL24 gene. The third family had c.3G>A (p.Met1?) mutation and the fourth family and had a novel de novo variant c.23del (p.Arg8AsnfsTer2). Conclusions. The description of the clinical manifestations of the disease in two generations of EBS families with different genetic variants allows the assessment and prediction of the natural course and severity of the disease in these families, the risk of complications and the planning of the amount of medical care necessary.

    Keywords: Epidermolysis Bullosa Simplex, syndromic epidermolysis bullosa, Rare phenotype, Genodermatosis, Klhl24 gene, genotype-phenotype correlations

    Received: 16 Apr 2024; Accepted: 04 Jul 2024.

    Copyright: © 2024 Kotalevskaya and Stepanov. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Yulia Y. Kotalevskaya, Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia

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