An unusual case of dominant dystrophic epidermolysis bullosa (Cockayne-Touraine disease) associated with juvenile idiopathic arthritis

Abstract

We report a rare case of co-existence of dominant dystrophic epidermolysis bullosa (EB) and juvenile idiopathic arthritis (JIA) in an 18-year-old male patient, who is born out of consanguineous marriage. He presented with blistering skin lesions all over the body since the 2nd day after his birth, anonychia of all the toes from childhood and symmetric polyarticular inflammatory arthritis for 4 years. Erythrocyte sedimentation rate and C-reactive protein were elevated. Skin biopsy of induced vesicle was done, and histopathology showed epidermis with basket-weave hyperkeratosis, basal pigmented layer and sub-epidermal free bulla, while dermis revealed a few thin-walled proliferating capillaries with sparse lymphocytes surrounding them. Immunofluorescence showed immunoglobulin G along the basement membrane confirming the diagnosis of EB. He was diagnosed to have polyarticular rheumatoid factor-negative JIA. Treatment with oral methylprednisolone, disease-modifying anti-rheumatic drugs and intra-articular triamcinolone injections resulted in symptomatic relief of the joint pains.

Keywords

• epidermolysis bullosa
• dominant dystrophic
• juvenile idiopathic arthritis