Epidermolysis Bullosa Simplex (EBS)
Kodas: H884
Short description
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.
General information
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 usually required for affected dogs. This variant, known as Epidermolysis Bullosa Simplex, is found in the Eurasier, and is caused by a recessive mutation to the gene PLEC.
Specifications
| Breeds | |
|---|---|
| Gene | PLEC |
| Chromosome | 13 |
| Mutation | c.3947G>A |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies present within days after birth with reduced body size, underweight and widespread formation of ulcers on the lips, tongue, nose, paws and abdomen. Due to poor quality of life, euthanasia is likely to be necessary.
References
Pubmed ID: 27878870
Year published: 2016
Omia ID: 2080
Omia variant ID:
Turnaround information
- 10 working days