Living with Pretibial dystrophic epidermolysis bullosa
A rare skin condition with fragile skin that blisters easily, mainly on the front of the lower legs.
Understanding Pretibial dystrophic epidermolysis bullosa
In this form, blisters and skin sores mainly occur on the front of the lower legs. In some people the feet, hands or nails are affected too. Healing is usually linked to thick scarring. It starts at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blisters on the front of the lower legs
- Fragile skin
- Thick scars after healing
- Nail changes or missing nails
- Itching
- Small white bumps (milia)
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 inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: deb-pt; epidermolysis bullosa dystrophica, pretibial; localized deb, pretibial form; localized dystrophic epidermolysis bullosa, pretibial form; pretibial blistering; pretibial deb
Patient organizations
- DEBRA of AmericaPretibial dystrophic epidermolysis bullosa · United States
- Epidermolysis Bullosa Medical Research FoundationPretibial 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 Pretibial dystrophic epidermolysis bullosa.
Explore research for Pretibial dystrophic epidermolysis bullosa
Explore actively recruiting Pretibial dystrophic epidermolysis bullosa studies with HealthSpark.
Find actively recruiting studies for Pretibial dystrophic epidermolysis bullosa with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Pretibial dystrophic epidermolysis bullosa studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Pretibial dystrophic epidermolysis bullosa
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Pretibial dystrophic epidermolysis bullosa experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.