Punctate palmoplantar keratoderma

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Overview

Punctate palmoplantar keratoderma (also known as keratosis punctata palmaris et plantaris, Buschke-Fischer-Brauer disease, or punctate keratoderma) is a rare inherited skin condition that affects the palms of the hands and the soles of the feet. In this condition, many small, hard, round bumps or pits develop on the skin of the palms and soles. These tiny thickened spots of skin, often described as looking like small thorns or seeds pressed into the skin, are caused by an overgrowth of the outer layer of skin (the keratin layer) at specific points. Symptoms usually begin in late adolescence or early adulthood, though they can appear at different ages. The bumps may be skin-colored, yellowish, or slightly translucent and can range from 2 to 8 millimeters in size. They may cause discomfort when walking or gripping objects, especially if they become numerous. The condition tends to be lifelong, though the severity can vary over time and may worsen with manual labor or friction. There is currently no cure for punctate palmoplantar keratoderma. Treatment focuses on managing symptoms and improving comfort. Options include regular use of moisturizers, keratolytic creams (which help soften and remove thickened skin), careful trimming or paring of the bumps, and in some cases retinoid medications. The condition does not typically affect overall health or lifespan, but it can cause significant discomfort and cosmetic concern for those affected.

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 palm and sole skinThickened skin spots that look like seeds or thornsPain or tenderness when walkingDiscomfort when gripping objectsYellowish or translucent hard spots on palms and solesRough or gritty texture on palms and solesWorsening of bumps with manual work or frictionCosmetic changes to the skin of hands and feet

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Punctate palmoplantar keratoderma.

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No actively recruiting trials found for Punctate palmoplantar keratoderma at this time.

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No specialists are currently listed for Punctate palmoplantar keratoderma.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Punctate palmoplantar keratoderma.

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Community

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Caregiver Resources

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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.What type of punctate palmoplantar keratoderma do I have, and is genetic testing recommended?,What are the best creams or treatments to reduce the bumps and discomfort?,Should I be screened for any associated health conditions?,Is oral retinoid therapy appropriate for my case, and what are the risks?,Should my family members be examined or tested for this condition?,How often should I have follow-up appointments?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Punctate palmoplantar keratoderma

What is Punctate palmoplantar keratoderma?

Punctate palmoplantar keratoderma (also known as keratosis punctata palmaris et plantaris, Buschke-Fischer-Brauer disease, or punctate keratoderma) is a rare inherited skin condition that affects the palms of the hands and the soles of the feet. In this condition, many small, hard, round bumps or pits develop on the skin of the palms and soles. These tiny thickened spots of skin, often described as looking like small thorns or seeds pressed into the skin, are caused by an overgrowth of the outer layer of skin (the keratin layer) at specific points. Symptoms usually begin in late adolescence o

How is Punctate palmoplantar keratoderma inherited?

Punctate palmoplantar keratoderma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Punctate palmoplantar keratoderma typically begin?

Typical onset of Punctate palmoplantar keratoderma is adult. Age of onset can vary across affected individuals.