Clinical manifestations, genetic characteristics and laboratory markers of patients with epidermolysis bullosa: a single tertiary referral center experience

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.