Overview
Hypopigmentation-punctate palmoplantar keratoderma syndrome is an extremely rare genetic skin condition that affects both skin color and the skin on the palms of the hands and soles of the feet. People with this syndrome have two main features: areas of lighter-than-normal skin (called hypopigmentation) on various parts of the body, and small, hard, raised spots (punctate keratoderma) on the palms and soles. The lighter skin patches occur because the skin produces less melanin, the pigment that gives skin its color. The thickened spots on the hands and feet can sometimes cause discomfort, especially when walking or gripping objects. This condition is present from birth or early childhood and is caused by genetic changes that affect how the skin develops and maintains itself. Because it is so rare, there are very few reported cases in the medical literature, which means our understanding of the full range of symptoms and the best treatments is still limited. Currently, there is no cure for this syndrome. Treatment focuses on managing symptoms, such as using moisturizers and keratolytic creams (creams that help soften and remove thickened skin) for the palmoplantar keratoderma, and cosmetic approaches for the hypopigmented areas. Patients benefit from regular follow-up with dermatologists and clinical geneticists to monitor the condition and adjust care as needed.
Also known as:
Key symptoms:
Light-colored patches of skin on the bodySmall hard bumps on the palms of the handsSmall hard bumps on the soles of the feetUneven skin coloringThickened skin on hands and feetDiscomfort when walking due to thickened skin on solesDry or rough skin on palms and solesCosmetically noticeable lighter skin areas
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 Hypopigmentation-punctate palmoplantar keratoderma syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypopigmentation-punctate palmoplantar keratoderma 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 Hypopigmentation-punctate palmoplantar keratoderma 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.What is the best skin care routine for managing the thickened skin on my hands and feet?,Should I or my child have genetic testing, and what would the results tell us?,Is there a risk that my other children could have this condition?,Are there any new treatments or clinical trials available for this syndrome?,How can I protect the lighter skin areas from sun damage?,Should I see any other specialists besides a dermatologist?,What should I watch for that would indicate the condition is getting worse?
Common questions about Hypopigmentation-punctate palmoplantar keratoderma syndrome
What is Hypopigmentation-punctate palmoplantar keratoderma syndrome?
Hypopigmentation-punctate palmoplantar keratoderma syndrome is an extremely rare genetic skin condition that affects both skin color and the skin on the palms of the hands and soles of the feet. People with this syndrome have two main features: areas of lighter-than-normal skin (called hypopigmentation) on various parts of the body, and small, hard, raised spots (punctate keratoderma) on the palms and soles. The lighter skin patches occur because the skin produces less melanin, the pigment that gives skin its color. The thickened spots on the hands and feet can sometimes cause discomfort, espe
How is Hypopigmentation-punctate palmoplantar keratoderma syndrome inherited?
Hypopigmentation-punctate palmoplantar keratoderma syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypopigmentation-punctate palmoplantar keratoderma syndrome typically begin?
Typical onset of Hypopigmentation-punctate palmoplantar keratoderma syndrome is childhood. Age of onset can vary across affected individuals.