Isolated punctate palmoplantar keratoderma

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Overview

Isolated punctate palmoplantar keratoderma (also known as punctate keratoderma, keratosis punctata palmaris et plantaris, or Buschke-Fischer-Brauer disease) is a rare inherited skin disorder characterized by the development of multiple small, hard, keratotic (thickened) papules on the palms of the hands and soles of the feet. These tiny, round, well-circumscribed lesions typically measure 2–8 mm in diameter and may be distributed across the entire palmoplantar surface or concentrated along the creases. The condition primarily affects the integumentary system (skin), specifically the palms and soles, and does not typically involve other organ systems, distinguishing it from syndromic forms of palmoplantar keratoderma. Symptoms usually develop during adolescence or early adulthood, though onset can vary. The keratotic papules may gradually increase in number over time. When the central keratotic plug is removed, a small depression or pit may remain. The lesions can occasionally cause discomfort, particularly on weight-bearing areas of the feet, and may interfere with manual dexterity. Some patients report worsening with mechanical stress or friction. There is no cure for isolated punctate palmoplantar keratoderma. Treatment is primarily symptomatic and aimed at reducing the thickness of the keratotic lesions. Topical keratolytic agents such as salicylic acid, urea-based creams, and topical retinoids may help soften and reduce the papules. Oral retinoids (such as acitretin) have been used in more severe cases with variable success. Mechanical debridement or paring of individual lesions can provide temporary relief. Regular moisturizing and avoidance of excessive friction are also recommended as part of ongoing management.

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Inheritance

Autosomal dominant

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

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

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

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No specialists are currently listed for Isolated punctate palmoplantar keratoderma.

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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 Isolated punctate palmoplantar keratoderma.

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Common questions about Isolated punctate palmoplantar keratoderma

What is Isolated punctate palmoplantar keratoderma?

Isolated punctate palmoplantar keratoderma (also known as punctate keratoderma, keratosis punctata palmaris et plantaris, or Buschke-Fischer-Brauer disease) is a rare inherited skin disorder characterized by the development of multiple small, hard, keratotic (thickened) papules on the palms of the hands and soles of the feet. These tiny, round, well-circumscribed lesions typically measure 2–8 mm in diameter and may be distributed across the entire palmoplantar surface or concentrated along the creases. The condition primarily affects the integumentary system (skin), specifically the palms and

How is Isolated punctate palmoplantar keratoderma inherited?

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