Living with Junctional epidermolysis bullosa gravis of Herlitz
A severe form of junctional epidermolysis bullosa with skin blisters, erosions, and trouble eating, starting in infancy.
Understanding Junctional epidermolysis bullosa gravis of Herlitz
Blisters and erosions affect the skin and mucous membranes such as the mouth. It is seen in newborns and infants. GARD lists problems with the nails and fingertips, breathing, nutrition, and growth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering skin
- Fragile skin
- Sores in the mouth
- Nail changes or missing nails
- Hoarse voice and breathing difficulty
- Slow growth, poor nutrition, and anemia
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 eye disease specialists, 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
- Eye disease specialists (ophthalmologists); 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
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: epidermolysis bullosa junctionalis, herlitz type; epidermolysis bullosa letalis; epidermolysis bullosa, junctional 1b, severe; epidermolysis bullosa, junctional, herlitz-pearson type; herlitz syndrome; herlitz type epidermolysis bullosa junctionalis
Patient organizations
- DEBRA of AmericaJunctional epidermolysis bullosa gravis of Herlitz · United States
- Epidermolysis Bullosa Medical Research FoundationJunctional epidermolysis bullosa gravis of Herlitz · 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 gravis of Herlitz.
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