Disease overview

Dystrophic Epidermolysis Bullosa is skin and connective tissue condition that results from the improper functioning of Collagen Type VII. Collagens are important for the structure of skin and the connective tissue. Collagen Type VII connects the surface layer of the skin to the underlying tissue.

Gene name

COL7A1

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include extremely stretchy skin that detaches from the underlying tissues and skin that is easily injured.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. A skin biopsy can help with diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 2003 Aug 1;12(15):1897-905. doi: 10.1093/hmg/ddg200. PMID: 12874109.

Niskanen J, Dillard K, Arumilli M, Salmela E, Anttila M, Lohi H, Hytönen MK. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One. 2017 May 11;12(5):e0177527. doi: 10.1371/journal.pone.0177527. PMID: 28493971; PMCID: PMC5426755.

Garcia TM, Kiener S, Jagannathan V, Russell DS, Leeb T. A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa. Genes (Basel). 2020 Dec 4;11(12):1458. doi: 10.3390/genes11121458. PMID: 33291836; PMCID: PMC7762066.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.