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H985

Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia, Butterfly Disease or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia, Butterfly Disease or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is usually required for affected dogs. This variant, known as (Recessive) Dystrophic Epidermolysis Bullosa (RDEB), is caused by a recessive mutation to the gene COL7A1. It is found in the Central Asian Shepherd Dog. Related variants are also found in the Golden Retriever and Basset Hound.

Kliniske egenskaper

Affected puppies present soon after birth with severe skin damage (lesions, blisters and ulcers) on the feet, ears, muzzle and inside of the mouth. The disease is severe and euthanasia due to poor quality of life is likely to be necessary.

Tilleggsinformasjon

Referanser

Pubmed ID: 28493971

Omia ID: 341

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