Congenital epidermolysis bullosa – a case report

Abstract

Bullous dermatitis in infants is a clinical term used for a number of disorders associated with primary neonatal pemphigus. The disease requires differentiation of autoimmune disorders such as pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid. These diseases are the result of pemphigus IgG antibodies that pass from the mother to the fetus through the placenta. The level of antibody titers in the pregnant woman and her clinical condition are not the markers of the severity of the disease in children, but, in case of a high level, a miscarriage premature birth, or even stillbirth, may occur. Staphylococcal syndrome exfoliative dermatitis (staphylococcal scalded skin syndrome - SSSS), the etiological agents of which are type A or B exfoliative toxins of Staphylococcus aureus, is most frequently observed. These toxins can activate as superantigens and cause T-cell activation. They induce proteolysis and separation of the granular layer of epidermis through direct binding of these antigens. Symptoms of the disorder, regardless of the etiologic factors, are common: redness of the skin and formation of bubbles of various sizes filled with serous or serous-bloody content. Bursting bubbles patches peel off, leaving bare, sometimes oozing surface. Extensive damage to the skin is a gateway to infection and disturbs the function of regulating warmth and water-electrolyte balance. Early detection of the cause and appropriate general and local treatment effectively prevent the development of sepsis. The authors present a case of a full-term neonate (male, birthweight 3230 g, good overall condition, 5-min Apgar score: 10) born with dermatitis bullosa of unknown etiology. Physical examination immediately after birth revealed multiple blisters filled with serous and serous-bloody content on the skin all over the neonatal body, mostly in the area of both armpits, elbows, wrists, knees, ankles and fingers of both hands and feet. The course of pregnancy was uncomplicated. However, detailed family history revealed pemphigus skin in the mother (from infancy up to the age of puberty) but the mother was not able to offer details on the diagnosis and treatment of this disease. Symptoms in the mother disappeared after her first menstrual period. Both, typical clinical symptoms presenting in the newborn and maternal pemphigus in the past initially suggested an autoimmune disorder. However, the examination of the levels of IgG antibody and anti-IgA in neonatal serum, as well as tissue examination by the immunofluorescence (IF) method to detect the presence of these antibodies, were negative and consequently the autoimmune disease was excluded. Negative results of bacteriological tests did not confirm the staphylococcal syndrome. It seems that the cause of cutaneous pemphigus observed in the newborn could be an intrauterine infection or hidden, undiagnosed collagen disease in the mother.