Familial cylindromatosis

How is familial cylindromatosis inherited?

Familial cylindromatosis is inherited in an autosomal dominantmanner and is associated with mutations in the CYLD gene. Each child of an individual with familial cylindromatosis has a 50% chance of inheriting a CYLD mutation and a 50% chance of not inheriting the mutation. Individuals with a CYLD mutation have an increased chance of developing multiple cylindromas; this is called a susceptibility or predisposition. Another mutation in the CYLD gene must occur by chance during a person's lifetime in order for tumors to develop. The number and type of tumors that develop in individuals with familial cylindromatosis varies, even among members of the same family.

Last updated on 05-01-20

What is familial cylindromatosis?

Familial cylindromatosis is a condition that causes multiple non- cancerous (benign) tumors called cylindromas to develop from the skin on the head and neck. These tumors rarely become cancerous (malignant). Many, rounded nodules of various size begin to develop shortly after puberty. They tend to grow very slowly and increase in number over time, and may be significantly affect appearance or cause vision difficulties. Individuals with this condition also have an increased chance to develop other skin tumors and tumors in the salivary gland.

Familial cylindromatosis is inherited in an autosomal dominant manner and is associated with mutations in the CYLD gene.

Last updated on 05-01-20

How might familial cylindromatosis be treated treated?

Treatment of familial cylindromatosis depends on the number, size, and location of tumors. Single cylindromas may be treated with surgery, cryotherapy, or laser therapy. Multiple cylindromas may require multiple surgeries to remove all the tumors. In the most serious cases, significant reconstructive surgery may be the only treatment option.

Unfortunately, there is currently no way to cure or prevent familial cylindromatosis.

Last updated on 05-01-20

Familial cylindromatosis Genetics Home Reference. June, 2012; Reference Link

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