Overview
Autosomal dominant punctate palmoplantar keratoderma (also known as punctate keratoderma or Buschke-Fischer-Brauer disease in some forms) is a group of inherited skin conditions that primarily affect the palms of the hands and the soles of the feet. The hallmark feature is the development of small, hard, raised bumps or pits (called punctate keratoses) on these areas. These tiny thickened spots of skin are caused by an overproduction of keratin, the tough protein that makes up the outer layer of skin. The bumps can range in size from a pinhead to several millimeters and may be painful, especially when walking or gripping objects. This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene from one parent is enough to cause the condition. Symptoms typically appear during adolescence or early adulthood, though the age of onset can vary. In some cases, punctate palmoplantar keratoderma has been associated with an increased risk of certain cancers, particularly of the colon, breast, or other organs, though this association is not seen in all families or all genetic subtypes. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving comfort. This may include regular use of moisturizers, keratolytic agents (creams that help soften and remove thickened skin), and careful removal of hardened skin by a dermatologist. Some patients benefit from oral retinoids in more severe cases. Regular cancer screening may be recommended depending on the specific genetic subtype and family history.
Also known as:
Key symptoms:
Small hard bumps on the palms of the handsSmall hard bumps on the soles of the feetTiny pits or depressions in the skin of palms and solesThickened skin patches on hands and feetPain when walking due to bumps on the solesDiscomfort when gripping objectsRough or gritty texture of palm and sole skinBumps that may come and go or gradually increase in numberCallus-like spots that are difficult to removeSkin cracking on the palms or soles
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature.
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Specialists
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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
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Caregiver Resources
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Mental Health Support
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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 specific genetic subtype of punctate palmoplantar keratoderma do I have, and does it carry any cancer risk?,Should I have genetic testing, and should my family members be tested as well?,What skin care routine do you recommend for managing my symptoms?,Would oral retinoids be appropriate for my case, and what are the side effects?,Do I need regular cancer screening, and if so, what type and how often?,Are there any clinical trials or new treatments being studied for this condition?,Can you refer me to a podiatrist for help with foot pain management?
Common questions about Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
What is Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature?
Autosomal dominant punctate palmoplantar keratoderma (also known as punctate keratoderma or Buschke-Fischer-Brauer disease in some forms) is a group of inherited skin conditions that primarily affect the palms of the hands and the soles of the feet. The hallmark feature is the development of small, hard, raised bumps or pits (called punctate keratoses) on these areas. These tiny thickened spots of skin are caused by an overproduction of keratin, the tough protein that makes up the outer layer of skin. The bumps can range in size from a pinhead to several millimeters and may be painful, especia
How is Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature inherited?
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.