Overview
Epidermolysis bullosa simplex due to BP230 deficiency (also called EBS-BP230 or EBS due to BPAG1 deficiency) is a rare inherited skin condition that causes the skin to blister very easily. In healthy skin, special proteins act like anchors that hold the outer layer of skin (the epidermis) firmly in place. One of these anchor proteins is called BP230, which is made by a gene known as DST. When this protein is missing or does not work properly, the skin becomes extremely fragile and blisters form with even minor rubbing, friction, or pressure. The blisters in this condition typically form within the outer layer of the skin itself, which is why it is classified as 'simplex' — meaning the skin splitting happens at a relatively shallow level. Blisters most often appear on the hands, feet, and other areas exposed to everyday friction. The condition is usually present from birth or early infancy. Unlike some other forms of epidermolysis bullosa, this type does not usually cause severe scarring or affect internal organs, though it can still significantly impact daily life and comfort. There is currently no cure for this condition. Treatment focuses on protecting the skin, preventing blisters, managing pain, and treating any wound infections that develop. A team of specialists including dermatologists and wound care nurses plays a central role in helping patients live as comfortably as possible.
Key symptoms:
Skin blisters that form easily from minor rubbing or frictionBlisters most commonly on the hands and feetFragile, delicate skin that tears or peels with little forcePain and discomfort at blister sitesSkin wounds that are slow to healRedness and rawness of the skin after blisters break openPossible thickening of skin on palms and soles over timeIncreased risk of skin infections at wound sitesBlistering that may worsen in hot or humid weather
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Epidermolysis bullosa simplex due to BP230 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Epidermolysis bullosa simplex due to BP230 deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Epidermolysis bullosa simplex due to BP230 deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best way to care for blisters and wounds at home, and can you show us the correct technique?,What signs of skin infection should prompt us to seek emergency care?,Are there any clinical trials or new treatments being studied that my family member might qualify for?,Should other family members be tested for this condition, and what are the chances of future children being affected?,What types of clothing, footwear, and wound care supplies do you recommend, and are any covered by insurance?,Are there any activities or environments we should avoid to reduce blistering?,Can you refer us to a specialized epidermolysis bullosa center or support organization?
Common questions about Epidermolysis bullosa simplex due to BP230 deficiency
What is Epidermolysis bullosa simplex due to BP230 deficiency?
Epidermolysis bullosa simplex due to BP230 deficiency (also called EBS-BP230 or EBS due to BPAG1 deficiency) is a rare inherited skin condition that causes the skin to blister very easily. In healthy skin, special proteins act like anchors that hold the outer layer of skin (the epidermis) firmly in place. One of these anchor proteins is called BP230, which is made by a gene known as DST. When this protein is missing or does not work properly, the skin becomes extremely fragile and blisters form with even minor rubbing, friction, or pressure. The blisters in this condition typically form withi
How is Epidermolysis bullosa simplex due to BP230 deficiency inherited?
Epidermolysis bullosa simplex due to BP230 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epidermolysis bullosa simplex due to BP230 deficiency typically begin?
Typical onset of Epidermolysis bullosa simplex due to BP230 deficiency is neonatal. Age of onset can vary across affected individuals.