Overview
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a very rare inherited condition that affects several parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:423454. The condition mainly causes problems with the nails, teeth, skin on the palms and soles of the feet, and the lining of the mouth. People with this syndrome often have nails that are unusually shaped, thickened, or poorly formed. The teeth may also be abnormal in shape, number, or structure. The skin along the edges of the palms and soles tends to become thick and rough — a condition called marginal palmoplantar keratoderma. Dark patches or spots inside the mouth, known as oral hyperpigmentation, are another key feature. Because this condition is so rare, our understanding of it is still growing. There is currently no cure, and treatment focuses on managing each symptom as it appears. A team of specialists — including dermatologists, dentists, and geneticists — usually works together to provide the best care. Early diagnosis is important so that the right support can be put in place as soon as possible.
Also known as:
Key symptoms:
Abnormally shaped or poorly formed nailsThickened or rough skin along the edges of the palms and soles of the feetUnusual or malformed teethDark patches or spots inside the mouthNails that may be discolored or brittlePossible missing or extra teethSkin changes that may cause discomfort when walking or using hands
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 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome.
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Specialists
View all specialists →No specialists are currently listed for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral 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 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 genetic test should we do to confirm the diagnosis and find the gene responsible?,Which specialists should be part of our care team, and how often should we see each one?,What is the best way to manage the thick skin on the palms and soles at home?,Are the dark patches in the mouth something we need to monitor closely, and could they ever become dangerous?,What dental treatments are recommended, and how early should we start?,Is there a risk that other family members could have this condition, and should they be tested?,Are there any patient registries or research studies we could join to help advance understanding of this condition?
Common questions about Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
What is Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome?
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a very rare inherited condition that affects several parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:423454. The condition mainly causes problems with the nails, teeth, skin on the palms and soles of the feet, and the lining of the mouth. People with this syndrome often have nails that are unusually shaped, thickened, or poorly formed. The teeth may also be abnormal in shape, number, or structure. The skin along the edges of the palms and soles tends to b
How is Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome inherited?
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome typically begin?
Typical onset of Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is childhood. Age of onset can vary across affected individuals.