Living with Epidermolysis bullosa pruriginosa
A rare form of dystrophic epidermolysis bullosa with skin lesions and very strong itching.
Understanding Epidermolysis bullosa pruriginosa
The skin lesions can be widespread or limited to certain areas. The itching can be severe and hard to control. It usually begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe itching (pruritus)
- Skin blisters
- Raised scaly patches (plaques)
- Thickened, leathery skin (lichenification)
- Poorly formed nails
- Blisters on the shins
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 can be autosomal dominant or autosomal recessive.
Also known as: deb pruriginosa; deb-pr; deb, pruriginosa; dystrophic epidermolysis bullosa pruriginosa; pruriginous dystrophic epidermolysis bullosa
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa pruriginosa · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolysis bullosa pruriginosa.
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- Recruiting studies from ClinicalTrials.gov
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