Authors
Tubanur Çetinarslan, Abdullah Kutay Masat, Şule Altıner, Işıl İnanır
Published in
Annals of medicine. Volume 58. Issue 1. Pages 2741779. Epub Oct 13, 2026.
Abstract
Epidermolysis bullosa (EB) is a group of genetically and clinically heterogeneous diseases that presents as blisters, erosions, crusts, and scars.
In this retrospective study, we report the clinical manifestations, genetic characteristics, and laboratory markers of patients with EB.
Fifteen patients with EB were included in the study. The most common type was dystrophic EB (DEB) (n = 10), followed by EB simplex (EBS) (n = 3), junctional EB (JEB) (n = 1), and Kindler EB (n = 1). The disease onset was from birth in 13 patients. The most common cutaneous manifestations were erosions (n = 12), vesicles and bullae (n = 8), scars (n = 6), and milia (n = 6). Nail abnormalities were observed in 11 patients and mucosal involvement in seven patients. The most common genetic mutation was COL7A1 gene mutation (n = 10), followed by PLEC (n = 2), ITGB4 (n = 1), KRT5 (n = 1), and FERMT1 (n = 1). Laboratory examination revealed iron deficiency in 10 patients. One patient had moderate vitamin D deficiency, and five had mild vitamin D deficiency.
EB is a genetic disease that may associated with many systemic comorbidities. Multidisciplinary management of wound care is essential for the early management of severe EB to avoid wound progression into scars and deformities. The levels of vitamins such as ferritin and zinc, and the levels of hemoglobin and albumin, should be optimal levels to optimize wound healing.
PMID:
42867271
Bibliographic data and abstract were imported from PubMed on 14 Oct 2026.
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