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H778

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

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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is often required for affected dogs. This variant of the disorder, known as Junctional Epidermolysis Bullosa (JEB), is found in the Australian Shepherd. It is caused by a recessive mutation to the gene LAMB3.

Caractéristiques cliniques

Affected puppies manifest within the first few months of life with reduced growth, as well as ulcers in the mouth, throat and ears. Further ulcers may also develop on the abdomen, joints and paw pads. These lesions are typically severe, and affected dogs are generally euthanized on humane grounds within the first six months of life.

Additional Information

Références

Pubmed ID: 32906717

Omia ID: 2269

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