Epidermolysis Bullosa: Clinical Observation and Practical Aspects of Treatment

Abstract

Epidermolysis bullosa (EB) is a heterogenous group of hereditary diseases characterized by blisters on the skin and mucous membranes resulting in scarring. General occurrence rate of the disease is 8-10 cases per 1 000 000 of childbirths, with the 1:1 ratio between boys and girl. In the majority of patients clinical signs of the disease appear at birth and under 1 year. There are four main EB types: simple, functional, dystrophic and Kindler syndrome. Nowadays more than 1000 mutations of 14 structural genes have been identified resulting in the development of different EB phenotypes. Pathogenesis of the disease is based on abnormal, lost or insufficient level of a specific protein, which plays a crucial role in adhesion of the epidermis and dermis. This case report presents a clinical case of EB in a newborn girl and practical aspects of its treatment at the early neonatal period. The girl was born from the II pregnancy, II delivery in normal physiological term of gestation assessed as having 8-9 scores by Apgar scale. Some areas of disturbed skin integrity on the lower limb with some aplasia, penicilli and exfoliation of the oral mucosa were found at birth. These areas underwent changes in the dynamics of the disease, but new ones continuously appeared. Individual topical treatment was prescribed considering the stage of wound healing; partial parenteral feeding was carried out with gradual transition to enteral feeding with breast milk through the orogastric tube. Consultations with specialists providing medical aid to children suffering from EB and close contacts with parent organizations promote professional care to these patients, especially at the early neonatal period.