FABRY DISEASE: ORAL FINDINGS AND POSSIBLE ASSOCIATION WITH AUTOIMMUNE DESQUAMATIVE GINGIVITIS

Abstract

Fabry disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme α-galactosidase A. We report a case of a 55-year-old woman, with previous diagnosis of Fabry disease that was referred complaining of pain in the gingiva for about 1 year. The physical examination revealed short fingers, angiokeratomas in the neck, fissured tongue and desquamative gingivitis. An incisional biopsy was performed in the gingival lesions and the histopathologic analysis revealed a subepithelial blister, compatible with the diagnosis of mucous membrane pemphigoid. A topical corticosteroid therapy was instituted associated with conventional periodontal treatment. After 3 weeks, all areas of erythema or ulceration were healed, and the symptoms had disappeared. Fabry disease is a rare disorder with a few cases of oral abnormalities described. A high incidence of autoantibodies has been reported in patients with Fabry disease, which may explain the development of the desquamative gingivitis condition. Fabry disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme α-galactosidase A. We report a case of a 55-year-old woman, with previous diagnosis of Fabry disease that was referred complaining of pain in the gingiva for about 1 year. The physical examination revealed short fingers, angiokeratomas in the neck, fissured tongue and desquamative gingivitis. An incisional biopsy was performed in the gingival lesions and the histopathologic analysis revealed a subepithelial blister, compatible with the diagnosis of mucous membrane pemphigoid. A topical corticosteroid therapy was instituted associated with conventional periodontal treatment. After 3 weeks, all areas of erythema or ulceration were healed, and the symptoms had disappeared. Fabry disease is a rare disorder with a few cases of oral abnormalities described. A high incidence of autoantibodies has been reported in patients with Fabry disease, which may explain the development of the desquamative gingivitis condition.