Overview
Disease with punctate palmoplantar keratoderma as a major feature refers to a group of rare genetic skin conditions where the main problem is the development of small, hard, raised bumps or pits on the palms of the hands and soles of the feet. The term 'punctate' means these spots appear as tiny, dot-like thickenings of the skin, rather than covering the entire palm or sole. These bumps are made of excess keratin, a tough protein that normally protects the skin surface. Over time, these spots can become painful, especially when walking or gripping objects, and may interfere with daily activities. This Orphanet grouping (ORPHA:308023) encompasses several conditions where punctate palmoplantar keratoderma is the defining or most prominent feature. The specific genetic cause can vary depending on the exact subtype. Some forms are linked to mutations in genes involved in keratin production or skin barrier function, such as AAGAB or COL14A1. Onset can range from childhood to adulthood depending on the subtype. Treatment is mainly supportive and focused on managing symptoms. There is no cure for these conditions. Doctors may recommend regular use of moisturizers, keratolytic creams containing urea or salicylic acid to soften the thickened skin, and careful foot care. In some cases, the hard spots can be carefully pared down by a dermatologist. Retinoid medications taken by mouth may be considered in more severe cases, though they carry side effects. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
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 on hands and feetPain when walking or standingDiscomfort when gripping objectsCallus-like spots that keep coming backDry or rough skin on palms and solesCracking or fissuring of thickened skinGradual worsening of skin bumps over time
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disease 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
No travel grants are currently matched to Disease with punctate palmoplantar keratoderma as a major feature.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific subtype of punctate palmoplantar keratoderma do I have, and what gene is involved?,Is there a risk that this condition is associated with any other health problems, such as cancer?,What is the best daily skin care routine to manage my symptoms?,Would oral retinoid medication be appropriate for my case, and what are the risks?,Should my family members be tested for this condition?,How often should I have follow-up appointments, and what should be monitored?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Disease with punctate palmoplantar keratoderma as a major feature
What is Disease with punctate palmoplantar keratoderma as a major feature?
Disease with punctate palmoplantar keratoderma as a major feature refers to a group of rare genetic skin conditions where the main problem is the development of small, hard, raised bumps or pits on the palms of the hands and soles of the feet. The term 'punctate' means these spots appear as tiny, dot-like thickenings of the skin, rather than covering the entire palm or sole. These bumps are made of excess keratin, a tough protein that normally protects the skin surface. Over time, these spots can become painful, especially when walking or gripping objects, and may interfere with daily activiti