Overview
Hyperkeratosis-hyperpigmentation syndrome is an extremely rare genetic skin condition. The name describes its two main features: hyperkeratosis, which means the outer layer of skin becomes unusually thick and rough, and hyperpigmentation, which means patches of skin become darker than normal. This condition typically affects the skin from an early age and can involve widespread areas of the body. People with this syndrome may notice thickened, scaly patches of skin along with areas of dark discoloration. The severity can vary from person to person. In some cases, the thickened skin may appear on the palms of the hands and soles of the feet (a feature called palmoplantar keratoderma), and darkened patches may be found on the trunk, limbs, or other body areas. The condition is classified under other specified congenital malformations of the skin (ICD-10 code Q82.8). Because this syndrome is so rare, there is no specific cure. Treatment is mainly supportive and focuses on managing symptoms. Moisturizers, keratolytic creams (which help soften and remove thickened skin), and sun protection may be recommended. Dermatologists and clinical geneticists are the primary specialists involved in care. Research into the exact genetic cause and better treatments is still ongoing, and much remains to be learned about this condition.
Key symptoms:
Thickened, rough patches of skinDark patches or spots on the skinScaly or flaky skinThickened skin on palms and solesDry skinUneven skin colorSkin that may feel bumpy or texturedPossible nail changes
Clinical phenotype terms (5)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Hyperkeratosis-hyperpigmentation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hyperkeratosis-hyperpigmentation 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 Hyperkeratosis-hyperpigmentation syndrome.
Community
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Caregiver Resources
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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 likely cause of my (or my child's) skin changes?,Is genetic testing recommended, and what might it tell us?,What skin care routine do you recommend for managing the thickened skin and dark patches?,Are there any prescription creams or treatments that could help?,Could this condition get worse over time, or does it tend to stay stable?,Should we see a genetic counselor to understand the chances of passing this to future children?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Hyperkeratosis-hyperpigmentation syndrome
What is Hyperkeratosis-hyperpigmentation syndrome?
Hyperkeratosis-hyperpigmentation syndrome is an extremely rare genetic skin condition. The name describes its two main features: hyperkeratosis, which means the outer layer of skin becomes unusually thick and rough, and hyperpigmentation, which means patches of skin become darker than normal. This condition typically affects the skin from an early age and can involve widespread areas of the body. People with this syndrome may notice thickened, scaly patches of skin along with areas of dark discoloration. The severity can vary from person to person. In some cases, the thickened skin may appear
At what age does Hyperkeratosis-hyperpigmentation syndrome typically begin?
Typical onset of Hyperkeratosis-hyperpigmentation syndrome is childhood. Age of onset can vary across affected individuals.