Junctional epidermolysis bullosa(JEB)
Also known as: Junktionale Epidermolysis bullosa · Epidermolysis bullosa junctionalis · Blasenbildende Hauterkrankung · Epidermolysis bullosa · Schmetterlingskrankheit · …
Overview
What it is
Junctional epidermolysis bullosa is a severe genetic skin disorder where the structural connection between the outer layer of skin, called the epidermis, and the deeper layer, the dermis, is unstable. Because these layers do not bind together properly, even minor friction or contact causes them to separate. This separation results in widespread, painful blistering and skin shedding across the body.
How it presents
Symptoms typically appear at birth or within the first few weeks of life. Owners will notice severe blistering, open sores on the paw pads, mouth, and other pressure points, as well as the loss of claws.
Treatment
This condition is incurable, and treatment is limited to palliative pain management until humane euthanasia is necessary. Associated costs for supportive care and diagnostic testing generally range from 300 to 1500 EUR.
How it's tested
Junctionale Epidermolysis bullosa (JEB) DNA-Test(JEB)
Primary testDNA testEin molekularbiologischer Gentest identifiziert die kausale Mutation für die junctionale Epidermolysis bullosa beim Australian Shepherd und ermöglicht den sicheren Nachweis von Trägern.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Dystrophe Epidermolysis bullosa (DEB) DNA-Test(DEB)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im COL7A1-Gen, um betroffene Hunde sowie symptomfreie Anlageträger (Träger) sicher zu bestimmen.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Epidermolysis bullosa DNA-Test(JEB/DEB)
Primary testDNA testEin Gentest identifiziert die spezifischen Mutationen (z.B. im LAMA3- oder COL7A1-Gen), die zu der extremen Hautfragilität und Blasenbildung führen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Junctionale Epidermolysis bullosa (JEB) DNA-Test(JEB (LAMA3))
Primary testDNA testEin molekularbiologischer Gentest zum Nachweis der ursächlichen Mutation im LAMA3-Gen, um betroffene Hunde sowie klinisch gesunde Anlageträger (Carrier) sicher zu identifizieren.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Junctionelle Epidermolysis bullosa (JEB) DNA-Test(JEB (LAMB3))
Primary testDNA testEin molekularbiologischer Gentest identifiziert die ursächliche Mutation im LAMB3-Gen mittels einer DNA-Probe (Blut oder Backenabstrich) und ermöglicht den Nachweis von betroffenen Hunden sowie symptomfreien Trägern.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Junctional epidermolysis bullosa?
Junctional epidermolysis bullosa is a severe genetic skin disorder where the structural connection between the outer layer of skin, called the epidermis, and the deeper layer, the dermis, is unstable. Because these layers do not bind together properly, even minor friction or contact causes them to separate. This separation results in widespread, painful blistering and skin shedding across the body.
How is Junctional epidermolysis bullosa tested?
Tests currently in our database: Junctionale Epidermolysis bullosa (JEB) DNA-Test, Dystrophe Epidermolysis bullosa (DEB) DNA-Test, Epidermolysis bullosa DNA-Test, Junctionale Epidermolysis bullosa (JEB) DNA-Test, Junctionelle Epidermolysis bullosa (JEB) DNA-Test.
Which breeds are most affected?
Most commonly affected: Central Asian Shepherd Dog.