Epidermolysis bullosa simplex, PLEC-related(EBS)
Also known as: Epidermolysis bullosa simplex · EBS-PLEC · Plectin-deficient EBS · Skin fragility syndrome · Hautblasen-Krankheit
Overview
What it is
This is an inherited skin disorder caused by a deficiency in plectin, a structural protein that helps bind the layers of the skin together. Without enough functional plectin, the skin lacks its normal structural integrity and becomes extremely fragile. Even minor friction, pressure, or rubbing causes the outer layers of the skin to separate and form painful blisters.
How it presents
Symptoms usually become visible during puppyhood. Owners will notice blisters, open sores, and crusts developing on areas prone to friction, such as the paw pads, ears, elbows, and inside the mouth, especially after physical activity.
Treatment
There is no cure for this condition, requiring lifelong supportive care focused on wound management, pain relief, and preventing secondary skin infections. Managing this severe disease is highly demanding and typically costs between €3,000 and €12,000 over the dog's lifetime.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Epidermolysis bullosa simplex (EBS) DNA-Test(EBS)
Primary testDNA testDer DNA-Test analysiert das KRT5-Gen auf die spezifische Mutation, die für die epidermale Instabilität und Blasenbildung verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Epidermolysis bullosa simplex, PLEC-related?
This is an inherited skin disorder caused by a deficiency in plectin, a structural protein that helps bind the layers of the skin together. Without enough functional plectin, the skin lacks its normal structural integrity and becomes extremely fragile. Even minor friction, pressure, or rubbing causes the outer layers of the skin to separate and form painful blisters.
How is Epidermolysis bullosa simplex, PLEC-related tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), Epidermolysis bullosa simplex (EBS) DNA-Test, Feragen Komplettpaket (rassespezifisch).
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.