Multiple familial trichoepithelioma 1

What causes multiple familial trichoepithelioma?

Multiple familial trichoepithelioma can be caused by mutations in the _CYLD _gene which is found on chromosome 16. It 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.

Last updated on 05-01-20

How is multiple familial trichoepithelioma diagnosed?

A diagnosis of multiple familial trichoepithelioma is made based on the symptoms in the patient, the patient’s family history, and the appearance of the trichoepithelioma cells under a microscope (histology). Multiple familial trichoepithelioma must be distinguished from basal cell carcinoma (cancerous tumor) and other rare genetic syndromes such as Cowden syndrome.

Last updated on 05-01-20

What is multiple familial trichoepithelioma?

Multiple familial trichoepithelioma is a genetic disorder characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The genetic disorder can be caused by mutations in the _CYLD _gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2. Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the mutated gene in each cell increases the risk of developing this disorder. However, a second, non-inherited (acquired) mutation is required for the tumors to develop in this disorder. Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.

Last updated on 05-01-20

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 on 05-01-20

How might multiple familial trichoepithelioma be treated?

Several therapies have been used to treat multiple trichoepitheliomas, with variable to poor results. A single trichoepithelioma may be treated with surgery. Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas. Imiquimod cream has also been used as a treatment for trichoepitheliomas, with some improvement in symptoms. Other treatments have included dermabrasion, photodynamic therapy, and other medications. However, in most cases, multiple trichoepitheliomas eventually regrow following treatment.

Last updated on 05-01-20


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