Living with Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
A mild inherited form of EB simplex with blisters on the feet after injury, usually first noticed in adulthood.
Understanding Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
The skin is fragile mainly at the hands and feet. Blisters mostly affect the feet, including the top of the foot. It is usually first noticed in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Blisters mostly on the feet
- Poorly formed toenails
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 DST 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 DST gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: dst-related epidermolysis bullosa simplex; ebs due to bp230 deficiency; ebs-ar bp230; ebs3; epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency; epidermolysis bullosa simplex due to bp230 deficiency
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency · 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 3, localized or generalized intermediate, with BP230 deficiency.
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