Overview
Autosomal dominant diffuse mutilating palmoplantar keratoderma is a rare inherited skin condition that causes the skin on the palms of the hands and soles of the feet to become extremely thick, hard, and calloused. The word "diffuse" means the thickening covers most of the palms and soles rather than appearing in patches. "Mutilating" refers to the severe nature of this form, where the thickened skin can lead to tightening bands around the fingers and toes (called pseudoainhum or digital constriction bands), which in severe cases may cause the fingers or toes to self-amputate or require surgical removal. This condition is also sometimes referred to as Vohwinkel syndrome or a variant of mutilating keratoderma, depending on the specific genetic cause and associated features. Symptoms typically begin in infancy or early childhood and worsen over time. The thickened skin can crack and become painful, making it difficult to walk or use the hands comfortably. Some forms may also be associated with hearing loss, starfish-shaped thickened patches on the tops of the hands and feet (knuckle pads), or other skin abnormalities. Because this is an autosomal dominant condition, only one copy of the altered gene is needed to cause the disease, and an affected parent has a 50% chance of passing it to each child. There is currently no cure for this condition. Treatment focuses on managing symptoms, including regular removal of thickened skin, moisturizing, and in some cases the use of oral retinoids (vitamin A-related medications) to help reduce skin thickening. Surgery may be needed if constriction bands threaten the blood supply to fingers or toes.
Key symptoms:
Thick, hard skin on the palms of the handsThick, hard skin on the soles of the feetPainful cracking or fissuring of thickened skinTight bands of skin forming around fingers or toes (constriction bands)Possible self-amputation of fingers or toes due to constriction bandsKnuckle pads or starfish-shaped thickened patches on tops of hands and feetDifficulty walking due to painful solesDifficulty gripping or using hands normallyHearing loss in some formsHoneycomb-like pattern of thickened skinNail abnormalitiesRedness and inflammation of affected skin
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant diffuse mutilating palmoplantar keratoderma.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant diffuse mutilating palmoplantar keratoderma.
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 Autosomal dominant diffuse mutilating palmoplantar keratoderma.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation is causing this condition in my family, and does that affect what other symptoms I should watch for?,Should I or my child have a hearing test?,Would oral retinoid medication be appropriate, and what are the risks and benefits?,How often should the thickened skin be professionally removed?,What signs should I watch for that would indicate a constriction band is becoming dangerous?,Is genetic counseling recommended for family planning?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Autosomal dominant diffuse mutilating palmoplantar keratoderma
What is Autosomal dominant diffuse mutilating palmoplantar keratoderma?
Autosomal dominant diffuse mutilating palmoplantar keratoderma is a rare inherited skin condition that causes the skin on the palms of the hands and soles of the feet to become extremely thick, hard, and calloused. The word "diffuse" means the thickening covers most of the palms and soles rather than appearing in patches. "Mutilating" refers to the severe nature of this form, where the thickened skin can lead to tightening bands around the fingers and toes (called pseudoainhum or digital constriction bands), which in severe cases may cause the fingers or toes to self-amputate or require surgic
How is Autosomal dominant diffuse mutilating palmoplantar keratoderma inherited?
Autosomal dominant diffuse mutilating palmoplantar keratoderma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant diffuse mutilating palmoplantar keratoderma typically begin?
Typical onset of Autosomal dominant diffuse mutilating palmoplantar keratoderma is infantile. Age of onset can vary across affected individuals.