Lupoid Dermatosis (Exfoliative Cutaneous Lupus Erythematosus)

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Related Terms: ECLE, LD, UNC93B1

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Before 1 year

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - German Shorthair Pointer
Canine - Vizsla

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Lupoid Dermatosis, also known as Exfoliative Cutaneous Lupus Erythematosus is a monogenic (controlled by one gene) autosomal recessive disease that has been described in German Shorthaired Pointers and Vizslas. Clinical signs become apparent before one year of age. These clinical signs include skin lesions, lameness, scaling, erythema (reddening of the skin), erosions/ulcers, scarring, disfiguration, decreased quality of life, progresses to joint pain, oligospermia (low sperm count) in males which progressed to azoospermia (absence of sperm), irregular heat cycles in females. Dogs with this disease have dramatically shortened life expectancies and are generally humanely euthanized upon diagnosis.

Poor – generally humanely euthanized upon diagnosis.

Autosomal recessive

Early in the disease process, the microscopic corneal layers are expanded by marked laminar orthokeratotic hyperkeratosis, and the epidermis will be moderately acanthotic with similar mild changes in the basal cell layer. As the disease progresses, the dermoepidermal junction will be obscured bys more pronounced vacuolar changes and lymphocytic infiltrates. Some individually necrotic keratinocytes may be located in the spinous layer.

UNC93B1 and XM_540813.6:c.1438C>A

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Lupoid Dermatosis (Exfoliative Cutaneous Lupus Erythematosus) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Lupoid Dermatosis (Exfoliative Cutaneous Lupus Erythematosus) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Lupoid Dermatosis (Exfoliative Cutaneous Lupus Erythematosus) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Leeb T, Leuthard F, Jagannathan V, Kiener S, Letko A, Roosje P, Welle MM, Gailbreath KL, Cannon A, Linek M, Banovic F, Olivry T, White SD, Batcher K, Bannasch D, Minor KM, Mickelson JR, Hytönen MK, Lohi H, Mauldin EA, Casal ML. A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE). Genes (Basel). 2020 Feb 3;11(2):159. doi: 10.3390/genes11020159. PMID: 32028618; PMCID: PMC7074252. Wang P, Zangerl B, Werner P, Mauldin EA, Casal ML. Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE. Immunogenetics. 2011 Apr;63(4):197-207. doi: 10.1007/s00251-010-0499-z. Epub 2010 Dec 4. PMID: 21132284; PMCID: PMC3230530.