Living with Epidermolysis bullosa dystrophica
A major form of epidermolysis bullosa in which fragile skin blisters easily and can scar, with a wide range of severity.
Understanding Epidermolysis bullosa dystrophica
In mild cases, blisters mostly affect the hands, feet, knees, and elbows. Severe cases involve widespread blistering and scarring that can affect the mouth, the esophagus, the eyes, the fingers and toes, and the joints. It can be present from birth. All types are caused by changes in the same gene.
Signs & symptoms
GARD doesn't list specific symptoms here. Its summary describes:
- Blisters and skin erosions from minor injury
- Scarring as blisters heal
- Blisters in the mouth and digestive tract
- Trouble chewing and swallowing
- Joint tightening (contractures)
- Loss of fingernails and toenails
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.
- 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); 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 one gene cause this condition. It can be autosomal dominant or autosomal recessive, depending on the type.
Also known as: deb; deb - dystrophic epidermolysis bullosa; dermolytic epidermolysis bullosa; dystrophic epidermolysis bullosa; dystrophic epidermolysis bullosa, hallopeau-siemens type (formerly)
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa dystrophica · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa dystrophica · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolysis bullosa dystrophica.
Explore research for Epidermolysis bullosa dystrophica
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