Overview
Skin fragility-woolly hair-palmoplantar keratoderma syndrome is an extremely rare genetic skin disorder that affects the skin, hair, and the palms of the hands and soles of the feet. This condition is sometimes referred to as skin fragility-woolly hair syndrome or may overlap with conditions in the desmoplakin-related skin fragility spectrum. It is caused by problems in proteins that help skin cells stick together, which leads to fragile skin that blisters or peels easily, unusually curly or woolly-textured hair (even in families where straight hair is typical), and thickened skin on the palms and soles (called palmoplantar keratoderma). These symptoms are usually present from birth or early infancy. The skin fragility means that even minor friction or trauma can cause blisters, erosions, or wounds, particularly in areas that experience rubbing such as the hands, feet, and skin folds. The woolly hair may be sparse or brittle. In some cases, the heart muscle can also be affected because the same proteins that hold skin cells together are important in heart tissue, so cardiac monitoring is often recommended. There is currently no cure for this condition. Treatment focuses on protecting the skin from injury, managing blisters and wounds to prevent infection, using moisturizers and keratolytic agents for thickened skin, and monitoring heart health. A team of specialists is typically needed to provide comprehensive care.
Key symptoms:
Fragile skin that blisters or peels easilyWoolly or unusually curly hairThickened skin on the palms of the handsThickened skin on the soles of the feetSkin erosions or open sores from minor frictionSparse or thin hairBrittle hair that breaks easilyNail abnormalities such as thickened or ridged nailsSkin redness or irritation in areas of frictionPossible heart muscle problems (cardiomyopathy)Slow wound healingSkin infections from open wounds
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 Skin fragility-woolly hair-palmoplantar keratoderma syndrome.
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Specialists
View all specialists →No specialists are currently listed for Skin fragility-woolly hair-palmoplantar keratoderma 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 Skin fragility-woolly hair-palmoplantar keratoderma 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.Does my child need heart monitoring, and how often should echocardiograms be done?,What is the best daily skin care routine to prevent blisters and infections?,Are there specific creams or treatments for the thickened skin on the palms and soles?,Should other family members be tested for this genetic change?,What signs of skin infection should I watch for, and when should I seek urgent care?,Are there any clinical trials or new treatments being studied for this condition?,What school or workplace accommodations might be helpful?
Common questions about Skin fragility-woolly hair-palmoplantar keratoderma syndrome
What is Skin fragility-woolly hair-palmoplantar keratoderma syndrome?
Skin fragility-woolly hair-palmoplantar keratoderma syndrome is an extremely rare genetic skin disorder that affects the skin, hair, and the palms of the hands and soles of the feet. This condition is sometimes referred to as skin fragility-woolly hair syndrome or may overlap with conditions in the desmoplakin-related skin fragility spectrum. It is caused by problems in proteins that help skin cells stick together, which leads to fragile skin that blisters or peels easily, unusually curly or woolly-textured hair (even in families where straight hair is typical), and thickened skin on the palms
How is Skin fragility-woolly hair-palmoplantar keratoderma syndrome inherited?
Skin fragility-woolly hair-palmoplantar keratoderma syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Skin fragility-woolly hair-palmoplantar keratoderma syndrome typically begin?
Typical onset of Skin fragility-woolly hair-palmoplantar keratoderma syndrome is neonatal. Age of onset can vary across affected individuals.