Clinical signs become apparent at 20 days of age. These clinical signs include blistering, ulcers on the lips, tongue, nasal planum, paw pads, and abdomen, lesions on the skin and oral cavity. Dogs with this disease have dramatically shortened lifespans and are generally humanely euthanized upon diagnosis, due to the pain and incurability of the condition.
Dogs with this disease have a mutation in a gene called PLEC which encodes a protein called plectin. Plectin is found in skin, bone, muscle, and nervous system tissue and is responsible for essentially holding components of the cell together. That this mutation in the PLEC gene results in lesions and blistering.
Poor – generally humanely euthanized upon diagnosis
Autosomal recessive
Dogs with this disease have a mutation in a gene called PLEC which encodes a protein called plectin. Plectin is found in skin, bone, muscle, and nervous system tissue and is responsible for essentially holding components of the cell together. That this mutation in the PLEC gene results in lesions and blistering. Microscopic examination of lesions skin reveals clefts, vesicles and broad areas of epithelial detachment in both the haired skin and mucous membranes (lips, tongue, oral cavity, genitalia) with ulcers and fibrinosuppurative inflammation.
PLEC and XM_539204.6:c.3947G>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 Epidermolysis Bullosa 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 Epidermolysis Bullosa 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 Epidermolysis Bullosa and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele. |
Mauldin EA, Wang P, Olivry T, Henthorn PS, Casal ML. Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Vet Dermatol. 2017 Feb;28(1):10-e3. doi: 10.1111/vde.12394. Epub 2016 Nov 7. PMID: 27878870; PMCID: PMC5324056.
