Overview
Focal palmoplantar keratoderma with joint keratoses is a rare inherited skin condition that causes thick, hardened patches of skin on specific areas of the palms of the hands and soles of the feet, as well as over the joints such as the knuckles, elbows, and knees. The word "keratoderma" means thickened skin, and "palmoplantar" refers to the palms and soles. Unlike some forms of keratoderma that affect the entire palm or sole, this "focal" type causes thickening only in certain spots, often in areas that experience the most pressure or friction. The joint keratoses (thickened skin over joints) are a distinguishing feature of this particular form. The condition typically develops in childhood or early life and tends to persist throughout a person's lifetime. The thickened skin can sometimes crack or become painful, especially on the feet, which may make walking uncomfortable. While this condition is not life-threatening, it can significantly affect quality of life due to discomfort and cosmetic concerns. There is currently no cure for this condition. Treatment focuses on managing symptoms and keeping the skin as comfortable as possible. This includes regular use of moisturizers, keratolytic agents (creams that help soften and remove thickened skin, such as those containing salicylic acid or urea), and sometimes careful physical removal of excess skin by a dermatologist. In more severe cases, oral retinoids may be considered. Genetic counseling is recommended for affected families.
Key symptoms:
Thick, hard patches of skin on the palms of the handsThick, hard patches of skin on the soles of the feetThickened skin over the knucklesThickened skin over the elbows and kneesCallus-like bumps on pressure points of the feetCracking or fissuring of thickened skinPain or tenderness when walkingDiscomfort when gripping objectsYellowish or waxy appearance of affected skin areasSkin that may blister before thickening in some cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Focal palmoplantar keratoderma with joint keratoses.
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Specialists
View all specialists →No specialists are currently listed for Focal palmoplantar keratoderma with joint keratoses.
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 Focal palmoplantar keratoderma with joint keratoses.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
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.What specific type of keratoderma does my child or I have, and how was this determined?,Should we pursue genetic testing to confirm the diagnosis?,What is the best daily skin care routine for managing the thickened skin?,Are there prescription creams or medications that could help reduce the skin thickening?,What are the risks and benefits of oral retinoid therapy for this condition?,Is there a chance my other children or future children could inherit this condition?,Are there any clinical trials or new treatments being studied for this type of keratoderma?
Common questions about Focal palmoplantar keratoderma with joint keratoses
What is Focal palmoplantar keratoderma with joint keratoses?
Focal palmoplantar keratoderma with joint keratoses is a rare inherited skin condition that causes thick, hardened patches of skin on specific areas of the palms of the hands and soles of the feet, as well as over the joints such as the knuckles, elbows, and knees. The word "keratoderma" means thickened skin, and "palmoplantar" refers to the palms and soles. Unlike some forms of keratoderma that affect the entire palm or sole, this "focal" type causes thickening only in certain spots, often in areas that experience the most pressure or friction. The joint keratoses (thickened skin over joints)
How is Focal palmoplantar keratoderma with joint keratoses inherited?
Focal palmoplantar keratoderma with joint keratoses follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Focal palmoplantar keratoderma with joint keratoses typically begin?
Typical onset of Focal palmoplantar keratoderma with joint keratoses is childhood. Age of onset can vary across affected individuals.