Living with Epidermolysis bullosa simplex
A group of genetic skin conditions where skin blisters easily, from mild blisters on the hands and feet to widespread blisters.
Understanding Epidermolysis bullosa simplex
Blisters and areas of skin loss follow minor injury or friction. In mild cases blisters mainly affect the hands and feet and usually heal without scars. Severe cases involve widespread blisters that can lead to infections and dehydration. There are four major types. The localized type may start from childhood to adulthood.
Signs & symptoms
GARD doesn't list specific symptoms here. Its summary describes:
- Skin that blisters easily
- Blisters on the hands and feet
- Widespread blisters in severe cases
- Thickened skin on palms and soles (hyperkeratosis)
- Abnormal nail growth
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 genes cause this condition. It can be autosomal dominant or autosomal recessive.
Also known as: ebs; eeb; epidermolysis bullosa simplex with mottled pigmentation (subtype); epidermolysis bullosa simplex, dowling-meara type (subtype); epidermolysis bullosa simplex, weber-cockayne type (subtype)
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolysis bullosa simplex.
Explore research for Epidermolysis bullosa simplex
Explore actively recruiting Epidermolysis bullosa simplex studies with HealthSpark.
Find actively recruiting studies for Epidermolysis bullosa simplex 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 Epidermolysis bullosa simplex 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 Epidermolysis bullosa simplex
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 Epidermolysis bullosa simplex 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.