Gorlin syndrome is rare, affecting 40,000 to 60,000 individuals. It affects men and women equally and is present in all races, though African American and Asian individuals may have a lower risk of the condition, making up 5 percent of all cases.
Gorlin syndrome can lead to the development of both noncancerous and cancerous tumors and developmental abnormalities, including:
- Keratocystic odontogenic tumors, or noncancerous (benign) tumors of the jaw
- Medulloblastoma, a type of cancerous, fast-growing brain tumor that develops in the cerebellum
- Cardiac or ovarian fibromas, which are typically benign tumors
- Superficial pits in the palms and soles of the feet, which around 75 to 90 percent of people with Gorlin syndrome have
- Macrocephaly, or a very large head
In addition, “Those with PTCH1 mutations can have bone and eye problems,” says Mignone. “The mutation is also associated with cleft lip or palate, and those with the mutation may be born with extra fingers or toes.”
While experts know that PTCH1 mutations can cause an increased risk of certain cancers, they are not as certain how the mutation relates to other changes associated with Gorlin syndrome.
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