Hamartoma syndrome is a category of genetic disorders that results from a genetic mutation of the PTEN gene. This condition, also referred to as a PTEN hamartoma tumor syndrome (PHTS), is a rare condition in which "hamartoma" describes benign tumor malformations that are overgrowths of tissue.
Etiology
The cause of hamartoma syndrome is genetic and related to the PTEN gene. The disorder results when the patient inherits what is called an autosomal dominant trait. In this case, children have a 50 percent chance of carrying the syndrome; specifically, the gene is present on one of the autosomal chromosomes (non-sex chromosome), and the likelihood of a trait or disorder being passed down is moderate to high. Additionally, the gene is known as a tumor suppressor gene which means it is responsible for controlling or regulating cell growth, division and so forth by suppressing cellular activity when appropriate. When this malfunctions, cell growth, division, maturity and cell death go out of control because of the dysregulation, and masses of tissue like hamartomas (tumors) occur. This also is a process involved in the development of malignant tumors--cancer.
Cowden's Disease
The disorder most strongly associated with hamartoma syndrome is Cowden's disease, a rare genetic condition that affects approximately 1 person out of 200,000, and is present in nearly 90 percent of all Cowden patients, as indicated by the Home Genetics Reference of the National Library of Medicine. Skin and mucous membrane areas (inside the nose, for example) are places where hamartomas frequently appear as early as in your twenties; however, they have been located inside the body as well. The more serious implication of Cowden's disease is the probability of several types of malignancies occurring; specifically, breast and endometrial cancer for women, and cancer of the thyroid, which occurs more frequently in men.
Other
A sample of other disorders associated with PHTS, yet not to the same degree as Cowden's disease, are Bannayan-Riley-Ruvalcaba, and Proteus and Proteus-like syndromes. More information exists at the National Organization for Rare Disorders (NORD) (see Resources).
