A mother with 3-month amenorrhea and 8-month-old dystrophic epidermolysis bullosa mitis child: Practical difficulties in genetic diagnosis

Epidermolysis bullosa (EB) is a congenital blistering disorder, classified into three types based on the level of split in the skin as simplex, junctional and dystrophic. Here, the authors reports a mother who had 13 weeks of amenorrhea and brought an 8-month-old male infant presenting with multiple blisters and erosion all over the body, associated with nail changes since birth. On further investigations, histopathological data showed the changes of EB along with Sanger sequencing and next-generation sequencing (NGS) technique showing mutation in COL7A1 gene which is confirmatory for EB. Based on clinical, histopathological, and molecular genetics data, the diagnosis of dystrophic EB with less severe mitis variant was made. Screening for the unborn child showed similar mutation, and parents were counseled about the termination of pregnancy but due to social restrains, they refused and an affected child was born with similar features as that of index case.