Overview
Mutilating palmoplantar keratoderma with periorificial keratotic plaques is a rare inherited skin disorder, also known as Olmsted syndrome. It causes the skin on the palms of the hands and soles of the feet to become extremely thick, hard, and painful — a process called keratoderma. Over time, this thickening can become so severe that it damages the fingers and toes, sometimes leading to loss of function or even loss of digits, which is why the word 'mutilating' is used to describe it. The disease also causes thick, scaly skin patches around body openings such as the mouth, nose, and anus — these are called periorificial keratotic plaques. Beyond the skin, people with Olmsted syndrome may experience painful cracks in the skin, nail changes, hair loss, and a heightened sensitivity to heat. The condition usually begins in infancy or early childhood and tends to get worse over time. It can cause significant pain and make everyday tasks like walking or using the hands very difficult. There is currently no cure for Olmsted syndrome. Treatment focuses on managing symptoms — mainly softening and removing the thickened skin, controlling pain, and preventing infections. Retinoids (vitamin A-based medicines) are commonly used and can help reduce skin thickening. Newer targeted therapies are being explored as researchers learn more about the genetic causes of this condition.
Also known as:
Key symptoms:
Extremely thick, hard skin on the palms and solesPainful cracks or fissures in the thickened skinThick, scaly skin patches around the mouth, nose, and anusDamage or loss of fingers and toes over timeNail thickening or abnormal nail growthHair loss (alopecia)Increased sensitivity to heatItching or burning sensation in affected skin areasDifficulty walking due to painful foot skinDifficulty using hands due to painful palm skinSkin infections in cracked areasConstricting bands around fingers or toes (pseudoainhum)
Clinical phenotype terms (23)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventKamari Pharma Ltd — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
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 Mutilating palmoplantar keratoderma with periorificial keratotic plaques.
Community
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Start the conversation →Latest news about Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Disease timeline:
New recruiting trial: Study of KM-023 in Healthy Volunteers and Patients With Olmsted Syndrome.
A new clinical trial is recruiting patients for Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Caregiver Resources
NORD Caregiver Resources
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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.Which gene mutation is causing my (or my child's) condition, and what does that mean for treatment options?,What is the best daily skin care routine to manage the thickening and prevent infections?,Are there any clinical trials or newer targeted therapies that might be appropriate for my case?,How often should I have specialist follow-up appointments, and which specialists should be involved in my care?,What warning signs should prompt me to seek urgent medical attention?,Are other family members at risk of having this condition, and should they be tested?,What support services or patient organizations are available to help me connect with others who have this condition?
Common questions about Mutilating palmoplantar keratoderma with periorificial keratotic plaques
What is Mutilating palmoplantar keratoderma with periorificial keratotic plaques?
Mutilating palmoplantar keratoderma with periorificial keratotic plaques is a rare inherited skin disorder, also known as Olmsted syndrome. It causes the skin on the palms of the hands and soles of the feet to become extremely thick, hard, and painful — a process called keratoderma. Over time, this thickening can become so severe that it damages the fingers and toes, sometimes leading to loss of function or even loss of digits, which is why the word 'mutilating' is used to describe it. The disease also causes thick, scaly skin patches around body openings such as the mouth, nose, and anus — th
At what age does Mutilating palmoplantar keratoderma with periorificial keratotic plaques typically begin?
Typical onset of Mutilating palmoplantar keratoderma with periorificial keratotic plaques is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Mutilating palmoplantar keratoderma with periorificial keratotic plaques?
Yes — 1 recruiting clinical trial is currently listed for Mutilating palmoplantar keratoderma with periorificial keratotic plaques on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.