Severe epidermolysis bullosa simplex: Series of three cases

Abstract

Introduction: Epidermolysis bullosa (EB) is a group of genetically determined rare disorders characterized by bullae, vesicles, and erosion of skin and mucous membrane, which can be spontaneous or following friction, minimal trauma, or heat. It has a complex genotype–phenotype correlation with different modes of inheritance and various degrees of presentation and severity. EB can also have extracutaneous manifestations involving oral mucosa, nail, hair, teeth, eye, gastrointestinal tract, and genitourinary system. Depending on the level of skin cleavage, EB is classified into four groups, among which EB simplex (EBS) is most common and further subclassified based on a phenotypical expression. Case Report: We present three cases of severe EBS manifested during the neonatal period with generalized extensive blister and erosion of skin, dystrophic nails, and healing with minimal scar and hypopigmentation. Discussion: Newborn presents with excessive fragile skin with widespread life-threatening blisters making the treatment and nursing care challenging. Proper wound care, prevention of infection, and other complications are the mainstay of treatment.

Keywords

• epidermolysis bullosa simplex
• hypopigmented scar
• neonatal presentation
• nursing care