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Genetic and Rare Diseases Information Center (GARD)

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Multiple familial trichoepithelioma 1


Other Names for this Disease
  • MFT1
  • Trichoepithelioma multiple familial 1
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Your Question

What is multiple familial trichoepithelioma? I was diagnosed with this condition, but no one else in my family has it. How can this be?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is trichoepithelioma multiple familial?

Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored papules that usually occur on the face, but may also occur on the scalp, neck, and trunk.[1][2] The lesions are derived from immature hair follicles.[2] They may get bigger over time, but they usually do not ulcerate.[1] Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.[1] It is caused by a mutation in the CYLD gene. It is inherited in an autosomal dominant fashion.
Last updated: 8/30/2009

What are the symptoms of multiple familial trichoepithelioma?

Trichoepitheliomas typically appear as 2 to 8 mm smooth, round, firm skin-colored papules.[2] They may first appear in childhood or at puberty, and gradually increase in number around the nose, forehead, upper lip, and occasionally scalp, neck, and upper trunk.[1] Trichoepitheliomas are non-cancerous. Rarely trichoepitheliomas transform to basal cell carcinoma (cancer) late in the course of the disease.[3]
Last updated: 8/27/2009

What causes multiple familial trichoepithelioma?

Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. Reduced penetrance means that not everyone with the gene mutation will develop symptoms of the condition.[1][2] Click here to learn more about autosomal dominant inheritance. Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene which is found on chromosome 16 or by a mutation on a gene on chromsome 9 that has yet to be identified.[4][5]
Last updated: 8/27/2009

How is multiple familial trichoepithelioma diagnosed?

Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patient’s family history, and the appearance of the trichoepithelioma cells under a microscope (histology).[2] Multiple familial trichoepithelioma must be distinguished from basal cell carcinoma (cancerous tumor) and other rare genetic syndromes such as Cowden syndrome.
Last updated: 8/27/2009

How might multiple familial trichoepithelioma be treated?

Treatment may include topical imiquimod therapy. Surgery to remove single lesions, and cryosurgery or laser surgery for multiple ones.[1][2]
Last updated: 8/30/2009

Do people with multiple familial trichoepithelioma always have affected family members?

Multiple familial trichoepithelioma is thought to be due to a single mutation in the CYLD gene or in another gene which has yet to be identified. A number of case reports of families with multiple familial trichoepithelioma demonstrating an autosomal dominant pattern of inheritance have been reported in the medical literature. Still, as with other autosomal dominant conditions, it is possible for a new mutation to occur for the first time in a family in an affected individual. For example a CYLD gene mutation may occur spontaneously for the first time in an egg or sperm or in the fertilized egg sometime after conception. This phenomenon is called a de novo or "new" mutation. A person with a new mutation would not be expected to have other affected family members.

In addition, some literature suggests that mutations that cause multiple familial trichoepithelioma may have reduced penetrance. This means that a person may inherit the disease causing mutation, yet never develop symptoms of the condition. As a result it is possible for a person with multiple familial trichoepithelioma to have a parent or other relative with the disease causing mutation, but with no symptoms of the condition.

If you have concerns about if and how multiple familial trichoepithelioma may be running in your family, we recommend that you speak with a genetics professional.
Last updated: 8/27/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

References