Living with Epidermolysis bullosa simplex, Koebner type
A form of EB simplex with widespread blisters beginning at birth or in infancy.
Understanding Epidermolysis bullosa simplex, Koebner type
It usually begins at birth or in infancy. Scarring is uncommon. The mouth, fingernails, and toenails may be mildly affected. Skin on the palms and soles may thicken more with age. It is diagnosed from symptoms and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters, often widespread
- Fragile skin that blisters without scarring
- Thick skin on palms and soles
- Patches of lighter or darker skin
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 KRT14 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 KRT14 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: autosomal dominant generalized ebs, intermediate form; autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; ebs, generalised intermediate; ebs, generalized intermediate; epidermolysis bullosa simplex 1b, generalized intermediate; epidermolysis bullosa simplex, kobner type
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex, Koebner type · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex, Koebner type · 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, Koebner type.
Explore research for Epidermolysis bullosa simplex, Koebner type
Explore actively recruiting Epidermolysis bullosa simplex, Koebner type studies with HealthSpark.
Find actively recruiting studies for Epidermolysis bullosa simplex, Koebner type 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, Koebner type 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, Koebner type
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, Koebner type 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.