Living with Junctional epidermolysis bullosa
A group of inherited skin conditions in which the skin is so fragile that it blisters easily, sometimes with blisters inside the mouth and digestive tract.
Understanding Junctional epidermolysis bullosa
Blisters and areas of skin loss form after minor rubbing or injury. There are two main types: generalized severe (formerly Herlitz) and generalized intermediate (formerly non-Herlitz). In the severe type, blistering starts at birth or early infancy over large areas and can affect the mouth and digestive tract, making eating hard. Children may be undernourished and grow slowly. Other effects can include scarring, nail and tooth enamel differences, joint contractures, and hair loss.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Fragile skin that blisters easily
- Skin erosions after minor injury
- Blisters in the mouth and digestive tract
- Trouble eating and slow growth
- Nail changes and tooth enamel differences
- Weak, hoarse cry and breathing difficulty in severe type
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with DEBRA of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital junctional epidermolysis bullosa; ebj; epidermolysis bullosa atrophicans; jeb
Patient organizations
- DEBRA of AmericaJunctional epidermolysis bullosa · United States
- Epidermolysis Bullosa Medical Research FoundationJunctional epidermolysis bullosa · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Junctional epidermolysis bullosa.
Explore research for Junctional epidermolysis bullosa
Explore actively recruiting Junctional epidermolysis bullosa studies with HealthSpark.
Find actively recruiting studies for Junctional epidermolysis bullosa with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Junctional epidermolysis bullosa studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Junctional epidermolysis bullosa
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Junctional epidermolysis bullosa experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.