Progressive symmetric erythrokeratodermia

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ORPHA:316OMIM:619209Q82.8
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Overview

Progressive symmetric erythrokeratodermia (PSEK) is a rare inherited skin disorder. It is also sometimes called Gottron's syndrome or progressive symmetric erythrokeratoderma. The condition causes two main types of skin changes: areas of redness (erythema) and areas of thickened, scaly skin (hyperkeratosis). These patches appear on both sides of the body in a roughly mirror-image pattern, which is what 'symmetric' means in the name. The skin changes usually begin in early infancy or childhood. The thickened, scaly patches most often appear on the face, buttocks, and the outer surfaces of the arms and legs. The red patches can shift and change location over time, while the thickened skin patches tend to stay more fixed. The skin may feel rough and uncomfortable, and in some cases it can be itchy or cause a burning sensation. There is no cure for PSEK at this time. Treatment focuses on managing symptoms and improving quality of life. Moisturizers, emollients, and keratolytic creams (products that help soften and remove thickened skin) are the main tools used. In more severe cases, doctors may prescribe oral retinoids, which are vitamin A-related medicines that can help reduce skin thickening. With consistent skin care, many people with PSEK can manage their symptoms reasonably well, though the condition is lifelong.

Also known as:

Key symptoms:

Thickened, scaly patches of skin (hyperkeratosis)Persistent redness of the skin (erythema) that can move aroundSkin changes appearing on both sides of the body in a symmetric patternRough or rough-feeling skin textureItching or burning sensation in affected areasPatches commonly on the face, buttocks, and outer limbsSkin changes that begin in infancy or early childhoodDry skin that is difficult to moisturizePossible mild scaling of the scalp

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

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Progressive symmetric erythrokeratodermia.

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No actively recruiting trials found for Progressive symmetric erythrokeratodermia at this time.

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No specialists are currently listed for Progressive symmetric erythrokeratodermia.

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 Progressive symmetric erythrokeratodermia.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which genes should be tested to confirm the diagnosis, and what does a positive result mean for other family members?,What skin care routine do you recommend, and which products are most effective for my specific symptoms?,When would you consider prescribing oral retinoids, and what are the risks and benefits?,Are there any clinical trials or new treatments I should know about?,How will this condition change over time, and what should I watch for as my child grows?,Are there any triggers that make the skin worse that I should try to avoid?,Can you refer me to a patient support group or a specialist with more experience in rare skin disorders?

Common questions about Progressive symmetric erythrokeratodermia

What is Progressive symmetric erythrokeratodermia?

Progressive symmetric erythrokeratodermia (PSEK) is a rare inherited skin disorder. It is also sometimes called Gottron's syndrome or progressive symmetric erythrokeratoderma. The condition causes two main types of skin changes: areas of redness (erythema) and areas of thickened, scaly skin (hyperkeratosis). These patches appear on both sides of the body in a roughly mirror-image pattern, which is what 'symmetric' means in the name. The skin changes usually begin in early infancy or childhood. The thickened, scaly patches most often appear on the face, buttocks, and the outer surfaces of the

How is Progressive symmetric erythrokeratodermia inherited?

Progressive symmetric erythrokeratodermia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Progressive symmetric erythrokeratodermia typically begin?

Typical onset of Progressive symmetric erythrokeratodermia is infantile. Age of onset can vary across affected individuals.