Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

Abstract

Epidermolysis bullosa (EB) is a rare hereditary disease. Its main feature is vesication and weeping sores (erosions) of the skin and mucous membranes, resulting from a minor injury. Clinical manifestations of the disease may vary from localized vesicles on the hands and feet to a generalized rash of the skin as well as lesions of the mucosa of the inner organs. At present, there are four main groups of EB: simple, intermediate, dystrophic, and Kindler syndrome. Mutations cause changes in the structure of the proteins responsible for the adhesion between layers of the dermis, leading to vesication. Treatment of EB is a challenge because of the lack of opportunities for the direct influence on the disease process, and its main purpose is to correct the existing cutaneous manifestations and prevent the occurrence of new elements. This article describes the main types of EB, methods of current diagnosis, and treatment of the disease as well as a clinical case of a rare combination of two severe disorders: 1) dystrophic EB and 2) arthrogryposis with upper and lower limb involvement.

Keywords

Epidermolysis bullosa / arthrogryposis / flexion contractures of extremities

References

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RIGHTS & PERMISSIONS

Agranovich O.E., Buklaev D.S., Tikhonenko T.I.