Epidermolysis Bullosa: physical and emotional disease

Introduction: Epidermolysis bullosa (EB), often referred to as the butterfly disease, is a group of rare genetic conditions characterized by skin that is delicate and fragile as butterfly wings. In this life threatening disease, skin and mucocutaneous memberanes blister readily with only mild trauma or even spontaneously. The prevalence is ۱ in ۵۰۰۰۰ live birth. EB types are divided into four main groups according to the depth below the skin surface at which the blisters occur.Goal: In addition of local and systemic treatments, psychological care of affected person should be considered. In neonatology, this issue is especially important because the psychological care of the parents must be provided.Case report: term boy from related parents was born by ceasarean section with large areas of erosion and skin blisters. In both legs, complete lack of skin could be seen in the form of aplasia cutis congenita, which extended from the legs to the heals. In the genital and gluteal areas, a wide area of erosion with positive Nikolsky was evident. Blistering lesions were evident in the hands, fingers, face, scalp, around the navel and mucus of the lips and tongue. The nails did not had dystrophy. The parents had a healthy ۱۲ years old child. Mother did not mention the history of using certain drugs except pregnancy supplements. The historyکذ همال :of genetic skin problems in the family was negative. In pregnancy ultrasounds, olighohydramnios was reported. In infectious investigations, mother HBS antigen reported positive and VDRL test was negative. In TORCH study, IgG Rubella, IgG CMV and Ig, IgM HSV reported positive.

کلیدواژه ها:

Epidermolysis bullosa ، neonatology ، psychological care of the parents