S Zhu, Y Jiang, J Zhu, J Qiao

Abstract

Epidermolysis bullosa dystrophica, Bart type (EBD-B) is an extremely rare congenital disease. Here, we report a case of a male newborn from China who presented with aplasia cutis congenita, epidermolysis bullosa, and toenail dysplasia that we diagnosed as EBD-B. Exon sequencing and Sanger sequencing showed that the child had a COL7A1 gene mutation inherited from his mother, so the epidermolysis bullosa type was determined to be dominant dystrophic epidermolysis bullosa. The blister symptoms of this type are relatively mild. Therefore, we only used conservative treatment to prevent the infection in the region of aplasia cutis congenita. Two months later, aplasia cutis congenita was completely cured except for sporadic skin blisters, and the growth of the child was not affected.