Subject(s)
Abnormalities, Multiple/physiopathology , Genetic Diseases, X-Linked/physiopathology , Ichthyosiform Erythroderma, Congenital/physiopathology , Limb Deformities, Congenital/physiopathology , Xanthomatosis/physiopathology , 3-Hydroxysteroid Dehydrogenases/genetics , Abnormalities, Multiple/genetics , Female , Genetic Diseases, X-Linked/genetics , Humans , Ichthyosiform Erythroderma, Congenital/genetics , Limb Deformities, Congenital/genetics , Male , Mutation , Xanthomatosis/geneticsABSTRACT
Dermatitis herpetiformis (DH) is a genetically determined, gluten sensitive autoimmune bullous dermatosis related to celiac disease in which granular, insoluble aggregates in the papillary dermis of epidermal transglutaminase (TG3), immunoglobulin A (IgA), and fibrinogen are present. Detection of the dermal IgA-TG3 immune complex is the gold standard of diagnosis. DH develops in a subpopulation of patients with gluten sensitive enteropathy, characterized by itching, erythematous, excoriated papules showing characteristic distribution over the knees, elbows and buttocks; vesicles are rarely seen. The primary therapy of DH is a strict, lifelong gluten-free diet, and it may be necessary to temporarily give dapsone in case of severe symptoms.
Subject(s)
Celiac Disease/immunology , Dermatitis Herpetiformis/immunology , Transglutaminases/immunology , Celiac Disease/diet therapy , Celiac Disease/pathology , Dermatitis Herpetiformis/diet therapy , Dermatitis Herpetiformis/pathology , Diet, Gluten-Free , Glutens , HumansABSTRACT
Linear IgA bullous dermatosis is a rare autoimmune blistering disease that occurs in both children and adults. Strings of pearls, crowns of jewels, rosettes and urticarial plaques can occur on the whole integument with emphasis on the face (particularly perioral area) and genitalia. Pruritus is common and may be severe. The presence of IgA deposits along the basement membrane can usually be identified using direct immunofluorescence (DIF) microscopy. The histological and clinical features of this disorder may mimic those of dermatitis herpetiformis.
