Living with Generalized dominant dystrophic epidermolysis bullosa
An inherited skin condition in which the skin blisters very easily; it is one of the milder forms of epidermolysis bullosa.
Understanding Generalized dominant dystrophic epidermolysis bullosa
It is one of the milder forms of epidermolysis bullosa (EB), though severity varies. Blisters may be present at birth but usually appear in early childhood, often at the knees, ankles, elbows, and knuckles. In adulthood, blisters usually become less frequent and scars fade.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy skin blistering
- Fragile skin
- Scarring of the skin
- Small white bumps (milia)
- Poorly formed or missing nails
- Constipation, tooth decay, and swallowing problems
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
Changes in the COL7A1 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: albopapuloid dystrophic epidermolysis bullosa of pasini; autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types; autosomal dominant generalized dystrophic epidermolysis bullosa; ddeb; ddeb (dominant dystrophic epidermolysis bullosa) intermediate; ddeb-gen
Patient organizations
- DEBRA of AmericaGeneralized dominant dystrophic epidermolysis bullosa · United States
- Epidermolysis Bullosa Medical Research FoundationGeneralized dominant 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 Generalized dominant dystrophic epidermolysis bullosa.
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