Living with Recessive dystrophic epidermolysis bullosa
A rare genetic skin condition with widespread blistering and scarring starting at birth.
Understanding Recessive dystrophic epidermolysis bullosa
Blistering can affect vision and cause disfigurement. As blisters heal, they leave severe scars. Scarring in the mouth and esophagus can make eating hard, leading to poor nutrition and slow growth. People have a very high risk of a type of skin cancer called squamous cell carcinoma, which can be unusually aggressive. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widespread skin blisters
- Fragile skin and slow-healing wounds
- Scarring and tight joints (contractures)
- Mouth sores and trouble eating
- Slow growth and anemia
- Missing or poorly formed nails
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 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
- Eye disease specialists (ophthalmologists); 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: autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type; autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; dysplastic epidermolysis bullosa dystrophica; dystrophic epidermolysis bullosa, autosomal recessive; ebd inversa
Patient organizations
- DEBRA of AmericaRecessive dystrophic epidermolysis bullosa · United States
- Epidermolysis Bullosa Medical Research FoundationRecessive dystrophic epidermolysis bullosa · 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.
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