Keratolytic winter erythema

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ORPHA:50943OMIM:148370L30.8
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Overview

Keratolytic winter erythema (KWE) is a rare inherited skin condition, also known as 'Oudtshoorn disease' or 'Oudtshoorn skin.' It causes the skin on the palms of the hands and soles of the feet to peel in cycles, often becoming red and inflamed in the process. The name describes its key features: 'keratolytic' means the skin sheds or peels, 'winter' reflects that symptoms are often worse in cold weather, and 'erythema' means redness of the skin. The condition typically begins in childhood and follows a recurring pattern. During flare-ups, the outer layer of skin on the palms and soles peels away in large sheets or patches, sometimes leaving the skin underneath looking raw, red, or tender. Between episodes, the skin may look relatively normal. Cold, dry weather and low humidity tend to trigger or worsen flare-ups, while warm weather often brings relief. There is no cure for KWE at this time. Treatment focuses on managing symptoms and keeping the skin comfortable. This usually involves regular use of moisturizers, emollients, and keratolytic creams that help soften and remove the peeling skin. Protecting the hands and feet from cold and dry conditions can also help reduce flare-ups. Most people with KWE have a normal life expectancy, and the condition does not affect internal organs.

Also known as:

Key symptoms:

Peeling or shedding of skin on the palms and soles in cyclesRedness of the skin on the palms and soles during flare-upsSkin that feels raw or tender after peelingSymptoms that get worse in cold or dry weatherSymptoms that improve in warm or humid weatherLarge sheets or patches of skin coming off the hands and feetItching or discomfort during active peeling episodesThickened skin between flare-ups in some peopleRecurring episodes throughout life

Clinical phenotype terms (3)— hover any for plain English
Inheritance

Autosomal dominant

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

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Keratolytic winter erythema.

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No actively recruiting trials found for Keratolytic winter erythema at this time.

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No specialists are currently listed for Keratolytic winter erythema.

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 Keratolytic winter erythema.

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic test should I have to confirm the diagnosis, and how long will results take?,What moisturizers or creams do you recommend, and how often should I apply them?,Are there any triggers besides cold weather that I should try to avoid?,What are the signs of a skin infection, and when should I seek urgent care?,Should my children or other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for KWE?,Can you refer me to a genetic counselor to understand the inheritance and family planning options?

Common questions about Keratolytic winter erythema

What is Keratolytic winter erythema?

Keratolytic winter erythema (KWE) is a rare inherited skin condition, also known as 'Oudtshoorn disease' or 'Oudtshoorn skin.' It causes the skin on the palms of the hands and soles of the feet to peel in cycles, often becoming red and inflamed in the process. The name describes its key features: 'keratolytic' means the skin sheds or peels, 'winter' reflects that symptoms are often worse in cold weather, and 'erythema' means redness of the skin. The condition typically begins in childhood and follows a recurring pattern. During flare-ups, the outer layer of skin on the palms and soles peels a

How is Keratolytic winter erythema inherited?

Keratolytic winter erythema follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Keratolytic winter erythema typically begin?

Typical onset of Keratolytic winter erythema is childhood. Age of onset can vary across affected individuals.