Overview
Kindler epidermolysis bullosa (also called Kindler syndrome or Kindler-Weary syndrome) is a rare inherited skin disorder that causes the skin to blister very easily, even from minor friction or injury. It belongs to a group of conditions called epidermolysis bullosa (EB), but it has some unique features that set it apart from other types. The condition is caused by changes (mutations) in a gene called FERMT1, which provides instructions for making a protein called kindlin-1. This protein helps hold the layers of skin together. Without it working properly, the skin becomes extremely fragile. From birth or early infancy, affected individuals develop painful blisters on the skin, especially on the hands and feet. Over time, the skin may become thin and wrinkled in appearance, a feature called poikiloderma. Sun sensitivity is also common. As people age, the condition can affect the inside of the body too, including the mouth, gut, and urinary tract, causing scarring and narrowing of these passages. There is currently no cure for Kindler epidermolysis bullosa. Treatment focuses on protecting the skin, managing wounds carefully, preventing infections, and treating complications as they arise. A team of specialists is usually needed to manage the many ways this condition can affect the body throughout a person's life.
Key symptoms:
Skin blistering from minor bumps or friction, especially on hands and feetBlistering present from birth or early infancySkin that becomes thin, wrinkled, and mottled over time (poikiloderma)Increased sensitivity to sunlightScarring of the skin after blisters healWebbing or fusion of fingers or toes over timePainful sores inside the mouthDifficulty swallowing due to scarring in the throat or esophagusNarrowing of the urethra causing problems with urinationInflammation and scarring in the gutIncreased risk of skin cancer (squamous cell carcinoma) in adulthoodFragile gums and dental problemsChronic wounds that are slow to heal
Clinical phenotype terms (41)— hover any for plain English
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 Kindler epidermolysis bullosa.
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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 Kindler epidermolysis bullosa.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of wound dressings are best for my specific situation, and where can I get them?,How often should I be screened for skin cancer, and what should I watch for at home?,Are there any clinical trials or new treatments I should know about for Kindler epidermolysis bullosa?,What signs of internal complications, like esophageal or urinary tract narrowing, should I watch for?,Should other family members be tested to see if they are carriers of the FERMT1 mutation?,What pain management options are available to make daily wound care more comfortable?,Are there specialized EB centers or multidisciplinary clinics you can refer me to?
Common questions about Kindler epidermolysis bullosa
What is Kindler epidermolysis bullosa?
Kindler epidermolysis bullosa (also called Kindler syndrome or Kindler-Weary syndrome) is a rare inherited skin disorder that causes the skin to blister very easily, even from minor friction or injury. It belongs to a group of conditions called epidermolysis bullosa (EB), but it has some unique features that set it apart from other types. The condition is caused by changes (mutations) in a gene called FERMT1, which provides instructions for making a protein called kindlin-1. This protein helps hold the layers of skin together. Without it working properly, the skin becomes extremely fragile. F
How is Kindler epidermolysis bullosa inherited?
Kindler epidermolysis bullosa follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Kindler epidermolysis bullosa typically begin?
Typical onset of Kindler epidermolysis bullosa is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Kindler epidermolysis bullosa?
16 specialists and care centers treating Kindler epidermolysis bullosa are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.