Overview
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome is an extremely rare genetic skin condition. It is sometimes referred to by its association with mutations in the RHBDF2 gene (also known as iRHOM2). This syndrome affects the body in three main ways. First, people develop unusual changes in skin color (pigmentation defects), which can include patches of lighter or darker skin. Second, they develop palmoplantar keratoderma, which means the skin on the palms of the hands and soles of the feet becomes abnormally thick, hard, and sometimes painful. Third, and most seriously, affected individuals have a significantly increased risk of developing skin cancers, particularly squamous cell carcinomas, often at a younger age than would normally be expected. The thickened skin on the hands and feet can make walking and gripping objects uncomfortable. The skin cancers require ongoing monitoring and may need surgical removal or other cancer treatments. Because of the cancer risk, regular skin checks by a dermatologist are essential. Treatment is mainly focused on managing symptoms — softening thickened skin, monitoring for and treating skin cancers early, and addressing pigmentation changes. There is currently no cure that addresses the underlying genetic cause of this condition.
Key symptoms:
Thickened skin on palms of handsThickened skin on soles of feetPatches of abnormal skin color (lighter or darker areas)Skin cancers, especially squamous cell carcinomaPainful or cracked skin on hands and feetDifficulty walking due to thick foot skinEarly-onset skin tumorsRough or scaly skin patchesIncreased sensitivity of hands and feetRecurrent skin lesions or growths
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 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome.
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 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome.
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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.How often should I have full-body skin checks, and what should I look for between visits?,What skin care routine do you recommend for managing the thick skin on my hands and feet?,Should my family members be tested for the same genetic mutation?,What are the early signs of skin cancer I should watch for?,Are there any medications that can reduce my risk of developing skin cancer?,Should I see a genetic counselor to discuss family planning?,What sun protection measures are most important for me?
Common questions about Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
What is Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome?
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome is an extremely rare genetic skin condition. It is sometimes referred to by its association with mutations in the RHBDF2 gene (also known as iRHOM2). This syndrome affects the body in three main ways. First, people develop unusual changes in skin color (pigmentation defects), which can include patches of lighter or darker skin. Second, they develop palmoplantar keratoderma, which means the skin on the palms of the hands and soles of the feet becomes abnormally thick, hard, and sometimes painful. Third, and most seriously, af
How is Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome inherited?
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.