Overview
Epidermolysis bullosa simplex due to exophilin 5 deficiency (also called EBS-EXPH5 or EBS due to EXPH5 mutation) is a rare inherited skin condition that belongs to the broader family of epidermolysis bullosa simplex (EBS) disorders. In this condition, the skin is extremely fragile and blisters very easily, even from minor rubbing, friction, or pressure that would not bother most people. The blistering happens because a protein called exophilin 5 (made by the EXPH5 gene) is missing or not working properly. This protein normally helps skin cells stay strong and hold together. Without it, the outer layer of skin breaks down and forms painful blisters. Most blisters appear on the hands, feet, and other areas that experience everyday friction. Unlike some other forms of epidermolysis bullosa, this type generally does not cause scarring of internal organs, though the skin symptoms can still be very disruptive to daily life. Blistering often starts in infancy or early childhood and may improve somewhat with age in some individuals. There is currently no cure for this condition. Treatment focuses on protecting the skin, preventing blisters, managing wound care, and controlling pain. A team of specialists including dermatologists and wound care nurses plays a central role in helping patients live as comfortably as possible. Research into gene therapy and other targeted treatments for epidermolysis bullosa is ongoing, offering hope for better options in the future.
Also known as:
Key symptoms:
Skin blisters that form easily from minor rubbing or frictionPainful open sores on the skin after blisters breakBlisters most commonly on the hands and feetSkin that tears or peels with very little forceRedness and rawness of affected skin areasItching or burning sensation around blistered areasSlow healing of skin woundsThickening of skin on palms and soles over time in some casesIncreased sensitivity to heat, which can worsen blistering
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Epidermolysis bullosa simplex due to exophilin 5 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Epidermolysis bullosa simplex due to exophilin 5 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 exophilin 5 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
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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 type of wound dressings and skin care products do you recommend for my specific situation?,How often should I have follow-up appointments, and what should I watch for between visits?,Are there any clinical trials or new treatments I should know about for this specific type of EBS?,Should other family members be tested for the EXPH5 gene mutation?,What signs of infection should prompt me to seek emergency care?,Are there any activity restrictions I or my child should follow to reduce blistering?,Can you refer me to a specialized epidermolysis bullosa center or a wound care nurse with EB experience?
Common questions about Epidermolysis bullosa simplex due to exophilin 5 deficiency
What is Epidermolysis bullosa simplex due to exophilin 5 deficiency?
Epidermolysis bullosa simplex due to exophilin 5 deficiency (also called EBS-EXPH5 or EBS due to EXPH5 mutation) is a rare inherited skin condition that belongs to the broader family of epidermolysis bullosa simplex (EBS) disorders. In this condition, the skin is extremely fragile and blisters very easily, even from minor rubbing, friction, or pressure that would not bother most people. The blistering happens because a protein called exophilin 5 (made by the EXPH5 gene) is missing or not working properly. This protein normally helps skin cells stay strong and hold together. Without it, the out
How is Epidermolysis bullosa simplex due to exophilin 5 deficiency inherited?
Epidermolysis bullosa simplex due to exophilin 5 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 exophilin 5 deficiency typically begin?
Typical onset of Epidermolysis bullosa simplex due to exophilin 5 deficiency is infantile. Age of onset can vary across affected individuals.