Multiple familial trichoepithelioma

Multiple familial trichoepithelioma (MFT) is a rare genetic disorder characterized by the presence of multiple skin tumors, primarily on the face. These tumors, known as trichoepitheliomas, are benign and originate from the hair follicle. MFT is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder to each of their children.

Symptoms and Signs

The primary symptom of MFT is the presence of multiple trichoepitheliomas. These are small, skin-colored papules that typically appear on the face, especially around the nose and cheeks. They usually begin to appear in adolescence or early adulthood and increase in number and size over time. Other symptoms can include milia (small, white bumps), acrochordons (skin tags), and sebaceous cysts.

Causes

MFT is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the CYLD gene disrupt this control, leading to the formation of trichoepitheliomas.

Diagnosis

Diagnosis of MFT is based on the clinical presentation of multiple trichoepitheliomas. A skin biopsy may be performed to confirm the diagnosis. Genetic testing can also be used to identify mutations in the CYLD gene.

Treatment

There is currently no cure for MFT. Treatment is focused on managing the symptoms and may include surgical removal of the trichoepitheliomas, laser therapy, or topical treatments.

See Also

• Trichoepithelioma
• CYLD
• Genetic disorder

References

Multiple familial trichoepithelioma Resources
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