Familial cylindromatosis

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ORPHA:211OMIM:132700D23.4D23.5
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1Specialists8Treatment centers

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Overview

Familial cylindromatosis, also known as turban tumor syndrome or Brooke-Spiegler syndrome (in its broader form), is a rare inherited skin condition that causes multiple benign (non-cancerous) tumors to grow on the skin. The tumors most commonly appear on the scalp, face, and neck, and are called cylindromas. Some people also develop other types of skin tumors called spiradenomas and trichoepitheliomas. These growths come from the sweat glands and hair follicles in the skin. The tumors usually start appearing in early adulthood and tend to grow slowly over time. In some cases, the growths on the scalp can become so numerous that they merge together, covering the scalp like a turban — which is where the nickname 'turban tumor syndrome' comes from. Most cylindromas are not dangerous on their own, but they can cause significant physical discomfort, pain, and emotional distress due to their appearance. In rare cases, a cylindroma can turn into a malignant (cancerous) tumor, so regular monitoring is important. Treatment is mainly surgical — tumors that are painful, growing quickly, or cosmetically bothersome can be removed. There is currently no medication that prevents new tumors from forming, though research is ongoing. People with this condition benefit from regular check-ups with a dermatologist and a clinical geneticist to watch for changes in existing tumors and to screen for new ones.

Also known as:

Key symptoms:

Multiple benign skin tumors on the scalpSkin tumors on the face and neckTumors that grow slowly over timeTumors that may merge together on the scalpPain or tenderness in areas with tumorsSkin tumors near the ears or eyelidsOccasional tumors on the trunk or limbsRarely, a tumor that changes rapidly and may become cancerousEmotional distress related to the appearance of tumors

Clinical phenotype terms (2)— 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

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial cylindromatosis.

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No actively recruiting trials found for Familial cylindromatosis at this time.

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Specialists

1 foundView all specialists →
FP
Fabio Moda, PHD
Specialist
PI on 1 active trial

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 cylindromatosis.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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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.Should I have genetic testing to confirm my diagnosis, and should my family members be tested too?,How often should I have skin check-ups, and what signs should prompt me to come in sooner?,What are the warning signs that a tumor might be becoming cancerous?,What are my surgical options, and how do I decide which tumors to have removed?,Are there any clinical trials or new treatments I should know about?,How can I manage the emotional and psychological impact of this condition?,What should I tell my children about their risk of inheriting this condition?

Common questions about Familial cylindromatosis

What is Familial cylindromatosis?

Familial cylindromatosis, also known as turban tumor syndrome or Brooke-Spiegler syndrome (in its broader form), is a rare inherited skin condition that causes multiple benign (non-cancerous) tumors to grow on the skin. The tumors most commonly appear on the scalp, face, and neck, and are called cylindromas. Some people also develop other types of skin tumors called spiradenomas and trichoepitheliomas. These growths come from the sweat glands and hair follicles in the skin. The tumors usually start appearing in early adulthood and tend to grow slowly over time. In some cases, the growths on th

How is Familial cylindromatosis inherited?

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

At what age does Familial cylindromatosis typically begin?

Typical onset of Familial cylindromatosis is adult. Age of onset can vary across affected individuals.

Which specialists treat Familial cylindromatosis?

1 specialists and care centers treating Familial cylindromatosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.