Assuntos
Anormalidades Múltiplas/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Eritrodermia Ictiosiforme Congênita/fisiopatologia , Deformidades Congênitas dos Membros/fisiopatologia , Xantomatose/fisiopatologia , 3-Hidroxiesteroide Desidrogenases/genética , Anormalidades Múltiplas/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Deformidades Congênitas dos Membros/genética , Masculino , Mutação , Xantomatose/genéticaRESUMO
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.
Assuntos
Doença Celíaca/imunologia , Dermatite Herpetiforme/imunologia , Transglutaminases/imunologia , Doença Celíaca/dietoterapia , Doença Celíaca/patologia , Dermatite Herpetiforme/dietoterapia , Dermatite Herpetiforme/patologia , Dieta Livre de Glúten , Glutens , HumanosRESUMO
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.
