Porokeratosis plantaris palmaris et disseminata

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ORPHA:737OMIM:175850Q82.8
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Overview

Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare inherited skin disorder that belongs to a group of conditions called porokeratoses. It is also sometimes called porokeratosis of Mibelli disseminata or disseminated superficial porokeratosis with palmoplantar involvement. In PPPD, the skin does not shed its outer layer normally, causing small, ring-shaped or ridged skin lesions to form. These lesions have a distinctive raised border called a cornoid lamella, which doctors can see under a microscope. The condition usually starts on the palms of the hands and soles of the feet, then spreads to other parts of the body over time. The lesions themselves are usually not painful, but they can be itchy and may look cosmetically bothersome. Over many years, there is a small but real risk that some lesions can turn into skin cancer, particularly squamous cell carcinoma. Because of this, regular skin check-ups are very important. PPPD tends to get worse with sun exposure, so sun protection is a key part of daily management. There is currently no cure for PPPD. Treatment focuses on managing symptoms, reducing the appearance of lesions, and monitoring for any signs of skin cancer. Options include topical creams, retinoids, laser therapy, and cryotherapy. With careful monitoring and sun protection, most people with PPPD can live a relatively normal life, though the condition is lifelong.

Also known as:

Key symptoms:

Small, ring-shaped or ridged skin lesions with a raised borderLesions starting on the palms of the hands and soles of the feetLesions spreading to the arms, legs, and trunk over timeItching or irritation around the lesionsDry, rough skin texture in affected areasWorsening of lesions with sun exposureCosmetic changes to the skin that may cause distressRarely, development of skin cancer in long-standing lesions

Clinical phenotype terms (10)— hover any for plain English
Annular cutaneous lesionHP:0025528Abnormal skin morphology of the palmHP:0040211Hyperkeratotic papuleHP:0045059Abnormality of the plantar skin of footHP:0100872PorokeratosisHP:0200044
Inheritance

Autosomal dominant

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

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Porokeratosis plantaris palmaris et disseminata.

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No actively recruiting trials found for Porokeratosis plantaris palmaris et disseminata at this time.

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No specialists are currently listed for Porokeratosis plantaris palmaris et disseminata.

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 Porokeratosis plantaris palmaris et disseminata.

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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.How often should I have my skin checked for signs of skin cancer?,Which treatments do you recommend for my specific lesions, and what are the side effects?,Should my family members be tested or examined for this condition?,What sun protection measures are most important for me to follow?,Are there any clinical trials or new treatments I should know about?,What warning signs should prompt me to seek urgent medical attention?,Should I have genetic testing, and what would the results mean for my family?

Common questions about Porokeratosis plantaris palmaris et disseminata

What is Porokeratosis plantaris palmaris et disseminata?

Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare inherited skin disorder that belongs to a group of conditions called porokeratoses. It is also sometimes called porokeratosis of Mibelli disseminata or disseminated superficial porokeratosis with palmoplantar involvement. In PPPD, the skin does not shed its outer layer normally, causing small, ring-shaped or ridged skin lesions to form. These lesions have a distinctive raised border called a cornoid lamella, which doctors can see under a microscope. The condition usually starts on the palms of the hands and soles of the feet, the

How is Porokeratosis plantaris palmaris et disseminata inherited?

Porokeratosis plantaris palmaris et disseminata follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Porokeratosis plantaris palmaris et disseminata typically begin?

Typical onset of Porokeratosis plantaris palmaris et disseminata is adult. Age of onset can vary across affected individuals.