Disease overview

Junctionalis Epidermolysis Bullosa is skin and connective tissue condition that is characterized by a separation of the specific layers of the skin. Affected dogs will have extremely stretchy skin that is easily injured because it is detached from the underlying tissues.

Gene name

LAMA3

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will have extremely stretchy skin that is easily injured because it is detached from the underlying tissues. They may present with blisters, especially around the mouth and limbs, as well as signs of severe respiratory distress.

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

Capt A, Spirito F, Guaguere E, Spadafora A, Ortonne JP, Meneguzzi G. Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol. 2005 Mar;124(3):530-5. doi: 10.1111/j.0022-202X.2004.23584.x. PMID: 15737193.

Herrmann I, Linder KE, Meurs KM, Friedenberg SG, Cullen J, Olby N, Bizikova P. Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement. Vet Dermatol. 2021 Aug;32(4):379-e108. doi: 10.1111/vde.12972. PMID: 34250689; PMCID: PMC8279226.

Disclaimer

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