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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.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.4579C>T |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | RDEB |
General information
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.
Clinical features
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.
Additional information
References
Pubmed ID: 28493971
Year published: 2017
Omia ID: 341
Omia variant ID: