Pediatria pre prax 1/2019
New born child with congenital epidermolysis bullosa (case report)
We present the case of a two hours old newborn boy with bullous skin lesions and a prenatally acquired skin defect of the right shin. By immunofluorescent antigen mapping in a skin biopsy sample the absence of an essential component of the basal membrane – the anchoring fibrils – could be demonstrated. Based on this finding and the clinical presentation the absence of collagen VII in the basal membrane of the epidermis was suspected. Molecular genetic analysis of the patient’s DNA revealed a pathological homozygous mutation in the collagen VII coding gene COL7A1. Based on these results the diagnosis of autosomal recessive severe generalised dystrophic epidermolysis bullosa was determined.
Keywords: bullous lesions, antigen mapping, DNA analysis, anchoring fibrils, collagen VII
