Overview
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome is an extremely rare genetic skin condition combined with learning difficulties. It belongs to the group of diseases called epidermolysis bullosa (EB), which cause the skin to be very fragile and blister easily. In this particular form, the blistering tends to appear later in life rather than at birth, and the blisters are usually limited to certain areas of the body rather than being widespread. In addition to the skin problems, people with this condition also experience intellectual disability, meaning they may have difficulty with learning, reasoning, and daily problem-solving skills. The skin blistering occurs at the junction between the outer layer of skin (epidermis) and the deeper layer (dermis), which is why it is called 'junctional' epidermolysis bullosa. The blisters can be painful and may lead to wounds that are slow to heal, scarring, and an increased risk of skin infections. Nails and teeth may also be affected. Because this condition is so rare, treatment options are mainly supportive. There is no cure at this time. Care focuses on protecting the skin from injury, managing blisters and wounds carefully to prevent infection, and providing educational and developmental support for intellectual disability. A team of specialists is usually needed to address the different aspects of this syndrome.
Key symptoms:
Skin blistering in localized areasFragile skin that tears or blisters with minor frictionIntellectual disability or learning difficultiesSlow-healing skin woundsScarring from repeated blisteringNail abnormalities such as thickened or missing nailsDental problems including enamel defectsSkin infections from open blistersPain at blister sitesDelayed developmental milestones
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Late onset
Begins later in life, typically after age 50
Treatments
No FDA-approved treatments are currently listed for Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome.
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 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome.
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 specific genetic mutation is causing this condition in my family?,What is the best daily skin care routine to prevent blisters and infections?,What developmental therapies and educational supports do you recommend?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or new treatments being studied for this condition?,What signs of complications should prompt us to seek emergency care?,Can you connect us with other families or support groups for epidermolysis bullosa?
Common questions about Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
What is Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome?
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome is an extremely rare genetic skin condition combined with learning difficulties. It belongs to the group of diseases called epidermolysis bullosa (EB), which cause the skin to be very fragile and blister easily. In this particular form, the blistering tends to appear later in life rather than at birth, and the blisters are usually limited to certain areas of the body rather than being widespread. In addition to the skin problems, people with this condition also experience intellectual disability, meaning the
How is Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome inherited?
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome typically begin?
Typical onset of Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome is late onset. Age of onset can vary across affected individuals.