Clinical manifestations, genetic characteristics and laboratory markers of patients with epidermolysis bullosa: a single tertiary referral center experience
Annals of Medicine, cilt.58, sa.1, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 58 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1080/07853890.2026.2741779
- Dergi Adı: Annals of Medicine
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Directory of Open Access Journals, Biomedical Reference Collection: Corporate Edition (EBSCO)
- Anahtar Kelimeler: Epidermolysis bullosa, genetics, nutrition, vitamin
- Ankara Üniversitesi Adresli: Evet
Özet
Background: Epidermolysis bullosa (EB) is a group of genetically and clinically heterogeneous diseases that presents as blisters, erosions, crusts, and scars. Materials and Method: In this retrospective study, we report the clinical manifestations, genetic characteristics, and laboratory markers of patients with EB. Results: 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. Conclusion: 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.