Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.

ABSTRACT:

Background

Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (EBS).

Hypothesis/objectives

To describe a novel blistering disease that arose spontaneously in a litter of puppies.

Animals

Two female and one male 20-day-old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis. The puppies had ulcers on the lips, tongue, nasal planum, paw pads and abdomen.

Results

Immunolabelling on frozen skin for basement membran

SUBMITTER: Mauldin EA 

PROVIDER: S-EPMC5324056 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature