Epidermolysis bullosa syndrome is a group of immune-mediated sub-epidermal blistering skin diseases that result from defects in the dermal-epidermal attachment structures and characterized by flaccid bullae that soon rupture, leaving glistening, flat erosions.
Although recognized in dogs for many years, until recently, these diseases were group into a category of bullous pemphigoid. In recent years, advanced diagnostic methods have allowed categorization based on immunohistochemistry developments. Epidermolysis bullosa is now categorized depending upon the level of intracutaneous cleavage into three major subgroups: simplex, junctional, and dystrophic epidermolysis bullosa, which contain more than 20 genetically and clinically distinct subtypes.
In dogs, these include:
- - Epidermolysis bullosa acquisita (junctional) - autosomal-recessive laminin 5 deficiency - seen in the Chesapeake Bay Retriever, German Shorthaired Pointer, Great Dane
- - Epidermolysis bullosa dystrophia (dystrophic) - autosomal recessive in the Golden Retriever - caused by mutations in the gene encoding collagen VII and is characterized by a lack of this collagen and its polymers — the anchoring fibrils — in the skin and mucosa
- - Ectodermal dysplasia (skin fragility syndrome) - Mexican Hairless and Chinese Crested dogs
- - Type I bullous systemic lupus erythematosus
- - Vesicular cutaneous lupus erythematosus
- - Linear immunoglobulin-A bullous disease
- - Mucous membrane pemphigoid
These diseases are an immune-mediated disease directed against junctional basement-membrane laminin, triggered by autoantigens. Although the etiology of these diseases is unknown, a strong genetic predisposition in some breeds suggests a defect in autoantigen regulation.
Affected dogs usually present with crusting, ulcerated lesions, alopecia and pigmentation on the face, trunk and extremities, together with dystrophic nails. Bilateral symmetrical erosions and ulcers are often seen affecting several mucous membranes in mucous membrane pemphigoid, the presence of characteristic eosinophil-rich sub-epidermal vesicles in bullous pemphigoid, and blisters and erosions affecting friction areas and footpads in epidermolysis bullosa acquisita.
Diagnosis is usually based on histological examination of skin biopsy samples.
- Olivry T et al (2012) Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One 7(2):e32072
- Merck Veterinary Manual
- Olivry T & Jackson HA (2001) Diagnosing new autoimmune blistering skin diseases of dogs and cats. Clin Tech Small Anim Pract 16(4):225-229
- Fine JD et al (2008) The classification of inherited epidermolysis bullosa (EB): Report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 58:931–950
- Capt A et al (2005) Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124(3):530-535
- Pertica G et al (2010) Prevalence of inherited junctional epidermolysis bullosa in German shorthaired pointers bred in Italy. Vet Rec 167(19):751-752
- Magnol JP et al (2005) Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol. Bull Acad Natl Med 189(1):107-119
- Bruckner-Tuderman L et al (2010) Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol 130(6):1485-1488
- Drögemüller C et al (2008) A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321(5895):1462
- Olivry T et al (1999) Bullous systemic lupus erythematosus (type I) in a dog. Vet Rec 145:165–169
- Olivry T et al (2000) Autoantibodies against the processed ectodomain of collagen XVII (BPAG2, BP180) define a canine homologue of linear IgA disease of humans. Vet Pathol 37:302–309
- Olivry T et al (2001) A spontaneous canine model of mucous membrane (cicatricial) pemphigoid, an autoimmune blistering disease affecting mucosae and mucocutaneous junctions. J Autoimmun 16:411–421
- Nagata M et al (1997) Non-lethal junctional epidermolysis bullosa in a dog. Br J Dermatol 137(3):445-449
- Yoon JS et al (2010) Two dogs with juvenile-onset skin diseases with involvement of extremities. J Vet Med Sci 72(11):1513-1516
- Hill PB et al (2008) Epidermolysis bullosa acquisita in a Great Dane. J Small Anim Pract 49(2):89-94
- Olivry T (2004) Spontaneous canine model of epidermolysis bullosa acquisita. In: Animal Models of Human Inflammatory Skin Diseases, ed. Chan LS. pp:227–237. CRC Press, Boca Raton, FL