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首页> 外文期刊>Pratique Médicale et Chirurgicale de l'Animal de Compagnie >Junctional epidermolysis bullosa associated with an absent expression of collagen XVII (BPAG(2), BP180) in German shorthaired pointers: a report of two cases
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Junctional epidermolysis bullosa associated with an absent expression of collagen XVII (BPAG(2), BP180) in German shorthaired pointers: a report of two cases

机译：Junctional epidermolysis bullosa associated with an absent expression of collagen XVII (BPAG(2), BP180) in German shorthaired pointers: a report of two cases

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abstract_textpInherited junctional epidermolysis bullosa (JEB) encompasses a group of congenital diseases that manifest with blistering and erosions due to a defective hemidesmosome/anchoring filament proteins leaning to cleavage in the lamina lucida of the epidermal basement membrane, We describe two new cases of familial localized non-lethal JEB in German Shorthaired Pointer littermates. Auricular, oral and pedal erosions and ulcers were noticed. Histopathological findings showed a dermoepidermal cleavage in the absence of basal keratinocyte cytolysis, Immunostainings using indirect immunofluorescence and immunoperoxidase testing for hemidesmosome/anchoring filament proteins were performed. Epidermal staining for laminin 5 and integrin alpha 6 was similar in affected and normal control dogs, Lack of expression of collagen XVII was uniquely identified in all sections of JEB cases compared with normal control dogs. Dapsone was prescribed for 4 months in one case without any results. The defective expression of collagen XVII is likely to be caused by mutation(s) of the COL17A1 gene, as previously reported in humans./p/abstract_text

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