Exfoliative cutaneous lupus erythematosus (ECLE)

General description

Typical symptoms are excessive skin scales, first at the face and later also at the ears, the back and the whole body. Moreover, loss of pigmentation of the skin (hypopigmentation) as well as erythemas can occur. As the disease progresses, hair loss, crusts, ulcers and temporary lameness are possible symptoms. The onset of the disease is usally at an juvenile or early adult age.

Breeds

German Short-haired Pointing Dog, Magyar Vizsla

Order details
Test number8688
AbbreviationECLE
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexdermatologic
Inheritanceautosomal recessive
Causalitycausally
GeneUNC93B1
MutationC-A
LiteratureOMIA:001609-9615
Detailed description

Exfoliative cutaneous lupus erythematosus (ECLE) is an autoimmune skin disease. The underlying cause of this disease at the breeds German Shorthaired Pointer and Magyar Vizsla is a variant of the UNC93B1 gene, which plays an important role for the innate immune system and therefore the immune resonse against pathogens. Typical symptoms are excessive skin scales, first at the face and later also at the ears, the back and the whole body. Moreover, loss of pigmentation of the skin (hypopigmentation) as well as erythemas can occur. As the disease progresses, hair loss, crusts, ulcers and temporary lameness are possible symptoms. The onset of the disease is usally at an juvenile or early adult age. Due to the severe symptoms, affected dogs usually have to be euthanized.