Familial keratoacanthoma

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Overview

Familial keratoacanthoma (also called familial keratoakanthoma or hereditary keratoacanthoma) is a rare inherited skin condition where a person develops multiple rapidly growing skin tumors called keratoacanthomas. These tumors usually look like firm, dome-shaped bumps with a central crater filled with keratin (a protein found in skin and nails). They most often appear on sun-exposed areas of the body, such as the face, hands, and arms. Unlike most keratoacanthomas that occur in people with no family history, the familial form tends to cause many tumors over a person's lifetime, often starting in young adulthood. The tumors can grow quickly over a few weeks but may sometimes shrink on their own. However, because they can look very similar to a type of skin cancer called squamous cell carcinoma, they always need to be checked and often treated by a doctor. Treatment usually involves removing the tumors through surgery, laser therapy, or medications applied to the skin or taken by mouth. Regular skin check-ups are very important for people with this condition. While the tumors themselves are usually not life-threatening, managing multiple recurring growths can be challenging and requires ongoing medical care. Some forms of familial keratoacanthoma are linked to other health concerns, such as internal cancers, so a full medical evaluation is recommended.

Also known as:

Key symptoms:

Multiple firm, dome-shaped skin bumps with a central craterRapidly growing skin growths, often appearing over weeksGrowths mainly on sun-exposed skin like the face, hands, and armsSkin tumors that may occasionally shrink and disappear on their ownScarring after tumors heal or are removedRecurring new tumors appearing throughout lifeSkin growths that can be tender or painfulPossible growths on the lips or around the nails in some formsIn some related syndromes, internal organ tumors may also develop

Clinical phenotype terms (7)— hover any for plain English
Adenoma sebaceumHP:0009720PapillomaHP:0012740
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 ↗NORD ↗

Treatments

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

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

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial keratoacanthoma community →

No specialists are currently listed for Familial keratoacanthoma.

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 keratoacanthoma.

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Community

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Latest news about Familial keratoacanthoma

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Caregiver Resources

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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.Which specific type of familial keratoacanthoma do I have, and does it increase my risk of internal cancers?,Should I have genetic testing, and what genes should be tested?,How often should I have my skin checked, and what warning signs should prompt an urgent visit?,Are oral retinoids a good option for me to reduce the number of new tumors?,Should my family members be tested or screened for this condition?,What sun protection measures are most important for me?,Are there any clinical trials or new treatments I should know about?

Common questions about Familial keratoacanthoma

What is Familial keratoacanthoma?

Familial keratoacanthoma (also called familial keratoakanthoma or hereditary keratoacanthoma) is a rare inherited skin condition where a person develops multiple rapidly growing skin tumors called keratoacanthomas. These tumors usually look like firm, dome-shaped bumps with a central crater filled with keratin (a protein found in skin and nails). They most often appear on sun-exposed areas of the body, such as the face, hands, and arms. Unlike most keratoacanthomas that occur in people with no family history, the familial form tends to cause many tumors over a person's lifetime, often startin

How is Familial keratoacanthoma inherited?

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

At what age does Familial keratoacanthoma typically begin?

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