Ehlers-Danlos syndrome is a disease that causes abnormal collagen production, resulting in hyper extensive and fragile skin as well as joint hypermobility.
TNXB
Autosomal recessive
Signs typically present prior to 2 years of age. These include hyperelastic skin that is easily torn and prone to atrophic scarring (indentations/depressions in the skin). Affected dogs are typically injury-prone and skin can bruise or bleed following even minor trauma, which can lead to secondary skin infections.
A veterinarian will review health history, conduct a thorough exam, and note any clinical signs. A skin biopsy is needed for a definitive diagnosis. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.
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Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet. 2019 Oct;50(5):546-549. doi: 10.1111/age.12830. Epub 2019 Jul 31. PMID: 31365140.
Rasch SN. Surgical and medical treatment of ocular disease in a dog with Ehlers-Danlos syndrome. Clin Case Rep. 2017 Apr 24;5(6):880-886. doi: 10.1002/ccr3.953. PMID: 28588831; PMCID: PMC5458014.
Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.
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