Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a rare and serious inherited skin condition where the skin and mucous membranes are extremely fragile. In healthy skin, different layers are held together by proteins that act like anchors. In JEB, mutations in the genes that make these anchoring proteins cause the layers to separate easily, leading to painful blisters and open wounds that form with very little friction or trauma — sometimes even from normal handling or clothing. JEB is one of the main types of epidermolysis bullosa (EB), a group of conditions sometimes called 'butterfly skin' because the skin is as fragile as a butterfly's wings. JEB affects not just the outer skin but also the moist linings inside the body, including the mouth, throat, esophagus, airways, eyes, and urinary tract. This means eating, swallowing, and breathing can all be affected. Blistering at birth or shortly after is common, and wounds can be slow to heal and prone to infection. Some forms of JEB are very severe and life-threatening in infancy, while others are milder and allow survival into adulthood. There is currently no cure for JEB, but treatment focuses on careful wound care, preventing infection, managing pain, and supporting nutrition. A gene therapy product called beremagene geperpavec (B-VEC, brand name Vyjuvek) has received FDA approval for a related form of EB, and research into gene and cell therapies for JEB is actively ongoing. A team of specialists is usually needed to manage this complex condition.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Which specific subtype of JEB does my child or I have, and what does that mean for the long-term outlook?,Which genes are affected, and should other family members be tested?,What wound care routine and dressings do you recommend, and can we get training from a wound care nurse?,Are there any clinical trials for gene therapy or other new treatments that we might qualify for?,How should we handle a skin infection or breathing emergency at home?,What specialists should be part of our care team, and how often should we see each one?,What support resources or patient organizations do you recommend for families living with JEB?

Common questions about Junctional epidermolysis bullosa

Related conditions

Other rare diseases commonly researched alongside Junctional epidermolysis bullosa.

• Dystrophic epidermolysis bullosa→
• Epidermolysis bullosa simplex→