Olivry T, Linder KE, Wang P, et al. 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: e32072. Abstract.
PubMed ID (PMID): 22384142
Reprint: Open Access (Click-to-View)
Comments: This is the first description of a congenital suprabasal epidermolysis bullosa in a small animal species. This paper describes the clinical, microscopic, ultrastructural and genetic cause of ectodermal dysplasia-skin fragility syndrome (ED-SFS) in Chesapeake Bay retriever dogs in the USA. This disease is caused by a mutation in the gene encoding plakophilin-1 (PKP1) with resulting absence of this protein. This PKP1 deficiency leads to the detachment of desmoplakin from desmosomes, keratin filament retraction and, ultimately, to suprabasal acantholysis. The clinical phenotype consists of erosions at areas of friction and abnormal hair coat.
Recommended by: Thierry Olivry, NC State University, Raleigh, NC, USA
