Junctional Epidermolysis Bullosa (JEB) is a disorder that causes severe blistering on the skin. There are two forms of this condition: Herlitz JEB (H-JEB) and non-Herlitz JEB (NH-JEB).
In H-JEB, individuals lack the anchors that hold their skin layers together. This leads to large blisters forming even with minor injuries or increased room temperature. Internal blistering also occurs in various body parts from birth, like the nose, mouth, and intestines. Healing results in soft, pink, bumpy skin called granulation tissue, which is prone to bleeding and infections. Babies with H-JEB might have breathing problems, fevers, loss of nails, poorly formed teeth, and more. NH-JEB is less severe; blisters occur in fewer areas like hands and feet and internal organs are usually not affected. Treatment involves protecting the skin, avoiding movements and clothes that could harm it, and using bandages. Antibiotics prevent infections, and proper nutrition and hydration are crucial. In severe cases, a small opening in the neck helps with breathing, although it’s challenging due to fragile skin.
This group of conditions is caused by pathogenic (disease-causing) variants in several genes including LAMA3, LAMB3, and LAMC2, 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.