Clinical signs become apparent between birth and 3 weeks of age. Clinical signs include an unusually fine coat, hair loss, skin fragility, inflammation, skin lesions, microscopic cell-cell lesions, blisters, and stunting. Dogs with this disease have dramatically shortened lifespans and are generally humanely euthanized upon diagnosis, due to the pain and incurability of the condition.
This condition is due to a variant in the first intron of the PKP1 gene resulting in a premature stop codon and dysfunctional proteins. The proteins coded for by this truncated gene are epidermal desmosomes, which are proteins responsible for anchoring cells together in the skin. Because this protein is dysfunctional, the skin of these dogs is very fragile and prone to lesions.
Poor – generally humanely euthanized upon diagnosis
Autosomal recessive
Acantholytic dermatosis. This condition is due to a variation in the first intron of the PKP1 gene resulting in a premature stop codon and dysfunctional proteins. The proteins coded for by this truncated gene are epidermal desmosomes, which are proteins responsible for anchoring cells together in the skin. Because this protein is dysfunctional, the skin of these dogs is very fragile and prone to lesions.
PKP1 and NM_001287161.1:c.202+1G>C
Explanation of Results
| Genotype |
Phenotype |
Interpretation |
| 2-2 (Homozygous Disease Variant) |
Unhealthy (Affected) |
Homozygous Affecteds (2-2) are expected to develop signs consistent with Ectodermal Dysplasia-Skin Fragility Syndrome 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 Ectodermal Dysplasia-Skin Fragility Syndrome 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 Ectodermal Dysplasia-Skin Fragility Syndrome and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele. |
Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One. 2012;7(2):e32072. doi: 10.1371/journal.pone.0032072. Epub 2012 Feb 22. PMID: 22384142; PMCID: PMC3284538.
