Familial cutaneous collagenoma

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ORPHA:53296OMIM:115250L94.8
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Overview

Familial cutaneous collagenoma (also sometimes called familial cutaneous collagenomata or connective tissue nevi of the collagen type) is a rare inherited skin condition. In this disease, the body produces too much collagen — the protein that gives skin its structure and strength — in certain areas of the skin. This extra collagen builds up and forms firm, flesh-colored or slightly raised bumps or plaques on the skin, most often on the back, chest, and upper arms. These skin growths are not cancerous and are generally painless, but they can be cosmetically bothersome. The condition usually appears during childhood or around puberty and tends to run in families. It is passed down in an autosomal dominant pattern, meaning only one copy of the changed gene is enough to cause the condition. Some people with familial cutaneous collagenoma may also have heart problems, particularly a condition called cardiac conduction defects, which affect the heart's electrical system. This makes it important for people with this diagnosis to be evaluated by a heart specialist. There is currently no cure for familial cutaneous collagenoma. Treatment focuses on managing the skin lesions if they cause distress, and monitoring for any heart-related complications. Skin lesions may be treated with laser therapy or minor surgical procedures for cosmetic reasons. Regular heart monitoring is an important part of ongoing care.

Key symptoms:

Firm, flesh-colored or slightly raised skin bumps or plaquesSkin growths most commonly on the back, chest, and upper armsMultiple skin lesions that increase in number over timeSkin lesions that are painless but may be cosmetically concerningIrregular heartbeat or heart rhythm problemsFainting or near-fainting episodes related to heart rhythm issuesFamily history of similar skin growths

Clinical phenotype terms (7)— 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 cutaneous collagenoma.

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No actively recruiting trials found for Familial cutaneous collagenoma at this time.

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No specialists are currently listed for Familial cutaneous collagenoma.

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 cutaneous collagenoma.

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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.

Mental Health Support

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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.Do I need a heart evaluation, and how often should my heart be monitored?,Should my family members be tested or screened for this condition?,What are my options for treating the skin lesions if they bother me?,Is genetic testing available to identify the specific gene change in my family?,Are there any activities I should avoid because of possible heart involvement?,What warning signs should prompt me to seek emergency care?,Are there any clinical trials or research studies I could participate in?

Common questions about Familial cutaneous collagenoma

What is Familial cutaneous collagenoma?

Familial cutaneous collagenoma (also sometimes called familial cutaneous collagenomata or connective tissue nevi of the collagen type) is a rare inherited skin condition. In this disease, the body produces too much collagen — the protein that gives skin its structure and strength — in certain areas of the skin. This extra collagen builds up and forms firm, flesh-colored or slightly raised bumps or plaques on the skin, most often on the back, chest, and upper arms. These skin growths are not cancerous and are generally painless, but they can be cosmetically bothersome. The condition usually ap

How is Familial cutaneous collagenoma inherited?

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

At what age does Familial cutaneous collagenoma typically begin?

Typical onset of Familial cutaneous collagenoma is juvenile. Age of onset can vary across affected individuals.