Living with Junctional epidermolysis bullosa inversa
A rare form of junctional epidermolysis bullosa with blisters in skin folds, groin, and the esophagus, present from birth.
Understanding Junctional epidermolysis bullosa inversa
Blisters and erosions are present from birth and are limited to skin folds, the esophagus, groin, and perineum. Blistering is usually severe, and healing can leave thin scars and tiny white bumps called milia. Nails, teeth, mouth, esophagus, and vagina can also be affected. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering skin
- Fragile skin
- Thin, sunken scars (atrophic scars)
- Poorly formed nails
- Weak tooth enamel
- Dental cavities
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, gum, teeth and mouth 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.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Epidermolysis Bullosa Medical Research Foundation 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: ebj-i; inverse jeb; jeb inversa; jeb-i
Patient organizations
- Epidermolysis Bullosa Medical Research FoundationJunctional epidermolysis bullosa inversa · 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 inversa.
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