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Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma.

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Specifications

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Epidermolysis bullosa (EB) consist of a group of heterogeneous heritable disorders, among which Junctional epidermolysis bullosa (JEB), characterised by blisters formed at sites of minor friction or trauma. Epitheliogenesis imperfecta (EI) is a term that has been used to describe congenital epithelial defects in animals.

Clinical features

Affected horses can show lesions at birth, have erosions, ulceration and atrophic skin, with pigmentation and alopecia on the face, trunk and extremities, together with dystrophic nails. The characteristic blistering of the skin and mucous membranes is caused by tissue separation within the lamina lucida of the basement membrane zone at the dermal–epidermal junction. Affected animals may die soon after birth as a result of lack of ability to suckle.

Additional information

References

Pubmed ID: 19016681

Omia ID: 1677

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