Overview
Porokeratosis of Mibelli is a rare skin condition that causes unusual patches to form on the skin. These patches have a distinctive raised, ridge-like border that forms a ring around a dry or slightly sunken center. The condition is named after the Italian doctor Vittorio Mibelli, who first described it in 1893. It is sometimes simply called 'Mibelli porokeratosis' or 'classic porokeratosis.' The patches most often appear on the hands, feet, arms, and legs, but can show up anywhere on the body, including the face and genitals. They tend to grow slowly over many years and can range from a few millimeters to several centimeters in size. The exact cause involves changes (mutations) in genes that help control how skin cells grow and divide. When these genes do not work properly, skin cells pile up abnormally, creating the characteristic raised border called a 'cornoid lamella.' Sun exposure, a weakened immune system, and certain medications can trigger or worsen the condition. While porokeratosis of Mibelli is not life-threatening, it does carry a small but real risk of turning into skin cancer over time, particularly squamous cell carcinoma. Because of this, regular skin check-ups are very important. Treatment focuses on managing symptoms, improving appearance, and watching closely for any signs of cancer. Options include topical creams, laser therapy, cryotherapy (freezing), and in some cases surgical removal of patches.
Key symptoms:
Raised, ridge-like ring-shaped borders on the skin (called cornoid lamella)Dry, flat, or slightly sunken skin inside the ringPatches that grow slowly over timeSkin patches that may be brown, pink, or skin-coloredMild itching or irritation in affected areasPatches appearing on hands, feet, arms, or legsPatches that may appear on the face or genitalsSkin that looks rough or scaly within the patchOccasional soreness or tenderness in affected skinChanges in skin texture or color over years
Clinical phenotype terms (5)— hover any for plain English
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 Porokeratosis of Mibelli.
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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 Porokeratosis of Mibelli.
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Caregiver Resources
NORD Caregiver Resources
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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.How many patches do I have, and which ones are at highest risk of becoming cancerous?,How often should I come in for skin check-ups, and what warning signs should I watch for at home?,Which treatment option is best for my specific patches, and what are the chances they will come back?,Should my family members be tested or examined for this condition?,Is genetic testing recommended for me, and what would the results mean for my children?,Are there any clinical trials or new treatments I should know about?,What sun protection measures are most important for me to follow every day?
Common questions about Porokeratosis of Mibelli
What is Porokeratosis of Mibelli?
Porokeratosis of Mibelli is a rare skin condition that causes unusual patches to form on the skin. These patches have a distinctive raised, ridge-like border that forms a ring around a dry or slightly sunken center. The condition is named after the Italian doctor Vittorio Mibelli, who first described it in 1893. It is sometimes simply called 'Mibelli porokeratosis' or 'classic porokeratosis.' The patches most often appear on the hands, feet, arms, and legs, but can show up anywhere on the body, including the face and genitals. They tend to grow slowly over many years and can range from a few m
How is Porokeratosis of Mibelli inherited?
Porokeratosis of Mibelli follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Porokeratosis of Mibelli typically begin?
Typical onset of Porokeratosis of Mibelli is childhood. Age of onset can vary across affected individuals.
Which specialists treat Porokeratosis of Mibelli?
2 specialists and care centers treating Porokeratosis of Mibelli are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.