ArticleFrontiers in medicine2024
Syndromic epidermolysis bullosa simplex subtype due to mutations in the
Article in Frontiers in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Epidermolysis Bullosa with Esophageal Complications and Co-Infection withInfection and drug resistance · 2025Article
- Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.Pediatric dermatologyArticle
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 a series of case reports of the syndromic subtype of EBS associated with mutations in the Conclusion: 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.
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