Living with Epidermolysis bullosa simplex, Ogna type
A rare inherited form of EB simplex with blisters on the hands and feet and easy bruising, starting around birth.
Understanding Epidermolysis bullosa simplex, Ogna type
It typically begins at birth. People have easy bruising, blisters that contain blood, and overgrown, curved nails.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blisters on the hands and feet
- Fragile skin
- Skin erosions
- Thick skin on palms and soles
- Light and dark skin patches
- Easy bruising
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 PLEC 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 PLEC gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: ebs-o; ebs-og; ebs5a; ebsog; epidermolysis bullosa simplex 5a, ogna type; epidermolysis bullosa simplex of ogna
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex, Ogna type · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex, Ogna 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, Ogna type.
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