Genetic basis of ECLE - is an autoimmune skin disease linked to a variant in the UNC93B1 gene. UNC93B1 is important for innate immune system function and immune response regulation. Known genetic predisposition primarily occurs in German Shorthaired Pointers (GSPs) and Magyar Vizslas. The mode of inheritance is autosomal recessive.
Pathophysiology - Mutation in UNC93B1 leads to dysregulated immune response, promoting autoimmune attack on skin cells. Results in chronic inflammation primarily targeting the skin, leading to progressive skin damage. Disease progression involves interface dermatitis affecting the epidermis and hair follicles plus destruction of sebaceous glands in some cases. Immune-mediated destruction causes scaling, ulcers, hair loss, and pigment changes.
Complications - Progressive and severe skin disease with ulcerations and secondary infections. Arthralgia and lameness affecting mobility. Potential reproductive difficulties. Most affected dogs require euthanasia due to declining health. Treatment responses are variable; therapies include corticosteroids, immunosuppressants, tetracycline-nicotinamide, and supportive care.
Why This Matters to Breeders and Vets - ECLE causes significant chronic skin disease leading to poor quality of life and often progression to euthanasia. Understanding the genetic cause allows for genetic testing to identify carriers and reduce disease incidence by selective breeding. Early diagnosis and recognition aid veterinarians in managing symptoms and preventing misdiagnosis with mimicking dermatoses. It highlights the autoimmune component of canine skin diseases and parallels to human lupus disorders.