Herlitz junctional epidermolysis bullosa (H-JEB) is a disorder causing severe skin blistering, both on the surface and inside the body.
Babies born with H-JEB often have blisters in their nose, mouth, throat, and other organs. Sadly, most babies with this disease don’t survive past their first year; only a few make it to their teens. In H-JEB, the skin layers lack proper anchors, making them very fragile. Even slight pressure or warmth can cause large blisters, leading to skin damage and infections. Babies with H-JEB may have a hoarse cry, breathing problems, and other issues. They might lose their nails, have tooth problems, and face kidney and urinary tract troubles. Unfortunately, there’s no cure for this condition. Doctors focus on protecting the skin and managing symptoms. Careful handling, special bandages, and antibiotics to prevent infections are essential. Sometimes, a special opening in the neck helps with breathing, but it’s tricky due to delicate skin.
H-JEB is caused by pathogenic (disease-causing) variants in the LAMB3 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
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Revised October 2023
