Epidermolysis bullosa pruriginosa: Report Of A Rare Case

Abstract

Epidermolysis bullosa prurugenosa is an extremely rare variant of dystrophic epidermolysis bullosa in which combination of intense pruritus and skin fragility lead to hypertrophic, lichenified nodules and plaques and show scarring, milia and nail dystrophy. Histologically, features of hyperkeratosis, acanthosis and minimal blistering at dermal-epidermal-sublamina level are characteristic. Most cases are inherited as autosomal recessive, dominant or sporadic. Its onset is often late, the clinical course is unpredictable and various factors leading to intense pruritus remain speculative. Diagnosis is from characteristic clinicopathologic features. The defect in anchoring fibrils has been attributed to mutations in COL7A1 gene mapped to 3p21.3 locus but glycine substitution within triple helical collagen domain of type VII molecule may not be exclusive to this variant. There is no satisfactory treatment and it is not known whether treatment of pruritus would prevent development of other manifestations of the disorder. Genetic counseling, future clinical surveillance and prenatal diagnosis perhaps remain useful. This paper describes a case of this rare disorder revisiting its various aspects.