Recessive Epidermolysis Bullosa simplex- A case report

Abstract

Background:Epidermolysis bullosa simplex (EBS) is characterized by intraepidermal blister formation, most commonly appearing in early infancy. Many variants of EBS exist; the four most common variants are inherited in an autosomal dominant fashion. The recessive forms are rare and less reported in our environment. The objective of this report is to describe the case of a young boy with a rare, recessive variant of EBS born to first-cousin parents. Method: The case records of a twelve-year old Nigerian male being managed at the dermatology clinic of Aminu Kano Teaching Hospital (AKTH), Kano was reviewed. Relevant clinical photographs with informed consent and review of literature were carried out.
Results: A 12 year old Nigerian male, product of consanguineous marriage presented to the dermatology clinic with recurrent blistering of the skin since early childhood. The areas of the skin commonly affected include the knees, ankles, wrists and elbows with seasonal variations in the severity of lesions. His immediate younger brother is said to have similar skin lesions. Physical examination and histology were in keeping with EBS.
Conclusion: Recessive EBS though rare, does occur in our environment and should be suspected in males with blistering skin conditions that are products of consanguineous marriage.

Key words: Epidermolysis bullosa simplex, consanguinity, skin blistering