Thost-Unna palmoplantar keratoderma

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Overview

Thost-Unna palmoplantar keratoderma (also called Thost-Unna disease, diffuse nonepidermolytic palmoplantar keratoderma, or NEPPK) is a rare inherited skin condition that causes the skin on the palms of the hands and soles of the feet to become very thick and tough. This thickening, called keratoderma, usually appears in the first few months or years of life and tends to get worse over time. The skin may look yellowish, feel leathery, and have a sharp border where the thickened skin meets normal skin. In some people, the thickening can spread slightly onto the sides of the hands and feet. The condition is caused by changes (mutations) in the KRT1 or KRT16 gene, which provide instructions for making proteins that help keep skin cells strong and connected. When these proteins do not work properly, skin cells build up faster than they should, leading to the characteristic thickening. Thost-Unna keratoderma does not usually affect internal organs, and most people have a normal life expectancy. There is no cure for Thost-Unna keratoderma, but symptoms can be managed. Treatments focus on softening and reducing the thick skin using moisturizers, keratolytic creams (products that help break down thickened skin), and careful physical removal of excess skin. With good daily skin care, many people are able to manage their symptoms and live active lives.

Key symptoms:

Very thick, tough skin on the palms and solesYellowish or ivory-colored skin on affected areasSharp, well-defined border between thick and normal skinSkin that feels leathery or waxy to the touchExcessive sweating of the hands and feet (hyperhidrosis)Unpleasant odor from the hands or feet due to sweatingDifficulty walking or standing for long periods due to thick sole skinPain or discomfort when walkingSkin that may crack or develop painful fissuresMild spread of thickening onto the sides of the hands and feet in some people

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Thost-Unna palmoplantar keratoderma.

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No actively recruiting trials found for Thost-Unna palmoplantar keratoderma at this time.

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No specialists are currently listed for Thost-Unna palmoplantar keratoderma.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Thost-Unna palmoplantar keratoderma.

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Community

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Latest news about Thost-Unna palmoplantar keratoderma

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Caregiver Resources

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Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

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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.Which gene is causing this condition in our family, and what does that mean for other family members?,What is the best daily skin care routine for managing the thickening?,Are there prescription creams or medications that would help more than over-the-counter products?,What type of footwear or orthotics would you recommend to reduce pain when walking?,Are there any clinical trials or new treatments we should know about?,Should other family members be tested for this condition?,What signs of complications, such as skin infections, should prompt us to seek medical care quickly?

Common questions about Thost-Unna palmoplantar keratoderma

What is Thost-Unna palmoplantar keratoderma?

Thost-Unna palmoplantar keratoderma (also called Thost-Unna disease, diffuse nonepidermolytic palmoplantar keratoderma, or NEPPK) is a rare inherited skin condition that causes the skin on the palms of the hands and soles of the feet to become very thick and tough. This thickening, called keratoderma, usually appears in the first few months or years of life and tends to get worse over time. The skin may look yellowish, feel leathery, and have a sharp border where the thickened skin meets normal skin. In some people, the thickening can spread slightly onto the sides of the hands and feet. The

How is Thost-Unna palmoplantar keratoderma inherited?

Thost-Unna palmoplantar keratoderma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Thost-Unna palmoplantar keratoderma typically begin?

Typical onset of Thost-Unna palmoplantar keratoderma is infantile. Age of onset can vary across affected individuals.