Multiple hamartoma syndrome
Multiple Hamartoma Syndrome
Multiple Hamartoma Syndrome (pronunciation: /ˈmʌltɪpəl hɑːmɑːrˈtoʊmə ˈsɪndroʊm/), also known as Cowden Syndrome, is a rare genetic disorder characterized by the presence of multiple hamartomas in various parts of the body. The term "hamartoma" is derived from the Greek words "hamartia" meaning "defect" and "oma" meaning "tumor".
Symptoms
The symptoms of Multiple Hamartoma Syndrome can vary greatly among individuals. Common symptoms include skin lesions, mucosal lesions, and gastrointestinal polyps. Some individuals may also develop thyroid disease, breast cancer, and endometrial cancer.
Causes
Multiple Hamartoma Syndrome is caused by mutations in the PTEN gene. This gene provides instructions for making a protein that helps regulate cell growth and cell division. Mutations in the PTEN gene disrupt this regulation, leading to the formation of hamartomas.
Diagnosis
Diagnosis of Multiple Hamartoma Syndrome is based on clinical criteria, including the presence of certain types of hamartomas, a family history of the syndrome, and/or the presence of certain types of cancer. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Multiple Hamartoma Syndrome is focused on managing symptoms and preventing complications. This may include regular medical surveillance, surgery to remove hamartomas, and/or medication to manage symptoms.
See Also
- Genetic disorder
- Hamartoma
- PTEN gene
- Cell growth
- Cell division
- Skin lesion
- Mucosal lesion
- Gastrointestinal polyp
- Thyroid disease
- Breast cancer
- Endometrial cancer
External links
- Medical encyclopedia article on Multiple hamartoma syndrome
- Wikipedia's article - Multiple hamartoma syndrome
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