Living with Recessive dystrophic epidermolysis bullosa inversa
A rare genetic skin condition in which blisters and sores mostly appear in skin folds starting in the teen years.
Understanding Recessive dystrophic epidermolysis bullosa inversa
From adolescence or early adulthood, the blisters and sores are mostly in the creases of the skin. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters and sores in skin folds
- Fragile skin
- Blisters in the mouth and genital area
- Poorly formed or missing nails
- Scars with sunken skin
- 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 and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in COL7A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
This condition is caused by changes in the COL7A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: dystrophic epidermolysis bullosa inversa; dystrophic epidermolysis bullosa inverse type; inverse rdeb; inverse recessive dystrophic epidermolysis bullosa; rdeb inversa; rdeb-i
Patient organizations
- DEBRA of AmericaRecessive dystrophic 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 Recessive dystrophic epidermolysis bullosa inversa.
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