Variable expressivity in dystrophic epidermolysis bullosa: A case study

Abstract

Epidermolysis Bullosa (EB) is a rare group of genetic cutaneous disorders that lead to the formation of blisters and erosions upon minimal trauma or friction. This condition leads to skin weaknesses, resulting in intraepidermal or dermal-epidermal cleavage. Over 30 subtypes exist; however, they fit within four significant groups, which are EB simplex (EBS), junction EB (JEB), dystrophic EB (DEB), and Kindler syndrome, defined by the location of the split. EB has a heterogeneous expression that can vary from mild blister to life-threatening skin compromises depending on the inheritance pattern and mutation. There is currently no cure, and management is supportive by avoiding triggers, trauma, and infection. With the promising future of gene therapy, much more research is needed to develop a treatment for each mutation and subtype. The prognosis for those who have mild phenotypes is favorable, but those with severe symptoms can live a life with chronic pain and complications that potentially lead to death. Our patient with DEB, however, presented differently from the pathognomonic manifestations.