Overview
Olmsted syndrome is a very rare genetic skin disease that causes the skin to thicken and harden in specific areas of the body. The name comes from Dr. H.C. Olmsted, who first described it in 1927. It is also sometimes called mutilating palmoplantar keratoderma with periorificial keratotic plaques. The disease mainly affects the palms of the hands, the soles of the feet, and the skin around body openings such as the mouth, nose, and anus. Over time, the thickened skin on the hands and feet can become so severe that it restricts movement and may even lead to the loss of fingers or toes in serious cases — this is what doctors mean by 'mutilating.' The skin around body openings tends to develop rough, warty patches. Many people with Olmsted syndrome also experience intense itching, pain, and a higher risk of skin infections. Some individuals develop additional features such as hair loss, nail abnormalities, or hearing problems. The disease usually appears in early infancy or childhood and tends to get worse over time. There is currently no cure, but treatments focus on softening the thickened skin, managing pain, controlling infections, and improving quality of life. Newer targeted therapies are being explored and have shown promise in some patients.
Also known as:
Key symptoms:
Very thick, hardened skin on the palms and soles (palmoplantar keratoderma)Rough, warty skin patches around the mouth, nose, and anusSevere itching, especially on the hands and feetPain in the hands and feet that can interfere with walking and daily tasksNarrowing or tightening of the skin around the fingers and toes, which can restrict movementLoss of fingers or toes in severe, long-standing casesNail thickening or abnormal nail growthHair loss (alopecia) in some individualsIncreased risk of skin infections due to skin breakdownHearing loss in some casesConstricting bands of skin around digits (pseudoainhum)Sensitivity to heat or sweating abnormalities
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Rare genetic skin disease.
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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 Rare genetic skin disease.
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.Which gene is causing my (or my child's) Olmsted syndrome, and what does that mean for how the disease might progress?,What skin care routine do you recommend, and which products are most effective for softening the thickened skin?,Are there any newer targeted treatments, such as JAK inhibitors or biologics, that might be appropriate for my case?,How often should I be seen by a dermatologist, and which other specialists should be part of my care team?,What signs of complications — such as infection or loss of blood flow to the fingers or toes — should prompt me to seek emergency care?,Are there any clinical trials or research studies I could participate in?,What are the chances that other family members could be affected, and should they be tested?
Common questions about Rare genetic skin disease
What is Rare genetic skin disease?
Olmsted syndrome is a very rare genetic skin disease that causes the skin to thicken and harden in specific areas of the body. The name comes from Dr. H.C. Olmsted, who first described it in 1927. It is also sometimes called mutilating palmoplantar keratoderma with periorificial keratotic plaques. The disease mainly affects the palms of the hands, the soles of the feet, and the skin around body openings such as the mouth, nose, and anus. Over time, the thickened skin on the hands and feet can become so severe that it restricts movement and may even lead to the loss of fingers or toes in seriou
At what age does Rare genetic skin disease typically begin?
Typical onset of Rare genetic skin disease is infantile. Age of onset can vary across affected individuals.
Which specialists treat Rare genetic skin disease?
15 specialists and care centers treating Rare genetic skin disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.