Living with Generalized junctional epidermolysis bullosa non-Herlitz type
An inherited skin condition with blistering across the body, scarring, nail changes, and weak tooth enamel, starting around birth.
Understanding Generalized junctional epidermolysis bullosa non-Herlitz type
It involves blistering over much of the skin, thin scars, poorly formed or missing nails, and weak tooth enamel. It can also affect areas beyond the skin. It is usually noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blistering
- Thin, sunken scars (atrophic scars)
- Poorly formed or missing nails
- Blisters in the mouth
- Scarring hair loss on the scalp, and sparse body hair
- Anemia (low red blood cells)
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.
- 4Connect with expert centers
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); 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
Changes in genes cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name the gene.
Also known as: gabeb; generalised atrophic benign epidermolysis bullosa; generalised junctional epidermolysis bullosa, non-herlitz type; generalized atrophic benign epidermolysis bullosa; generalized atrophic benign epidermolysis bullosa - gabeb; generalized junctional epidermolysis bullosa, non-herlitz type
Patient organizations
- DEBRA of AmericaGeneralized junctional epidermolysis bullosa non-Herlitz type · United States
- Epidermolysis Bullosa Medical Research FoundationGeneralized junctional epidermolysis bullosa non-Herlitz type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Generalized junctional epidermolysis bullosa non-Herlitz type.
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