Familial multiple trichoepithelioma

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ORPHA:867OMIM:601606D23.3D23.4D23.5
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Overview

Familial multiple trichoepithelioma (FMT) is a rare inherited skin condition where small, non-cancerous tumors called trichoepitheliomas grow on the skin. These tumors develop from hair follicle cells and most often appear on the face, especially around the nose, upper lip, cheeks, and forehead. The condition is also sometimes called epithelioma adenoides cysticum or Brooke-Fordyce trichoepitheliomas. The tumors usually look like small, firm, skin-colored or slightly pink bumps. They tend to appear during childhood or the teenage years and may slowly increase in number over time. While the tumors themselves are almost always benign (not cancerous), they can cause significant cosmetic concerns and emotional distress, especially when they appear on the face. In rare cases, a trichoepithelioma can transform into a type of skin cancer called basal cell carcinoma, so regular monitoring by a dermatologist is important. The condition is caused by changes (mutations) in certain genes, most commonly the CYLD gene, and it runs in families following an autosomal dominant pattern, meaning only one copy of the altered gene is enough to cause the condition. Treatment is mainly focused on managing the appearance of the tumors. Options include laser therapy, dermabrasion, surgical removal, and other skin procedures. There is currently no cure, but many people with FMT live full and healthy lives with proper skin care and monitoring.

Key symptoms:

Small, firm, skin-colored or pinkish bumps on the faceTumors clustered around the nose, cheeks, upper lip, and foreheadSlowly increasing number of skin bumps over timeBumps that may also appear on the scalp or neckSkin bumps that are usually painlessCosmetic changes to facial appearanceOccasional bumps on the trunk or other body areasRarely, a bump that grows quickly or bleeds, which may signal cancerous change

Clinical phenotype terms (4)— 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

Juvenile

Begins in the teen years

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial multiple trichoepithelioma.

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No actively recruiting trials found for Familial multiple trichoepithelioma at this time.

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No specialists are currently listed for Familial multiple trichoepithelioma.

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 Familial multiple trichoepithelioma.

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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.Should I have genetic testing, and which genes should be tested?,How often should I have my skin checked, and what warning signs should I watch for?,What treatment options are available to improve the appearance of my skin bumps?,Is there a risk that any of my tumors could become cancerous, and how would we know?,Should my children or other family members be tested or monitored?,Are there any clinical trials or new treatments I should know about?,Can you refer me to a genetic counselor to help my family understand the inheritance of this condition?

Common questions about Familial multiple trichoepithelioma

What is Familial multiple trichoepithelioma?

Familial multiple trichoepithelioma (FMT) is a rare inherited skin condition where small, non-cancerous tumors called trichoepitheliomas grow on the skin. These tumors develop from hair follicle cells and most often appear on the face, especially around the nose, upper lip, cheeks, and forehead. The condition is also sometimes called epithelioma adenoides cysticum or Brooke-Fordyce trichoepitheliomas. The tumors usually look like small, firm, skin-colored or slightly pink bumps. They tend to appear during childhood or the teenage years and may slowly increase in number over time. While the tu

How is Familial multiple trichoepithelioma inherited?

Familial multiple trichoepithelioma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial multiple trichoepithelioma typically begin?

Typical onset of Familial multiple trichoepithelioma is juvenile. Age of onset can vary across affected individuals.