General
Cowden syndrome (multiple hamartoma syndrome) is classified as a hereditary disorder. The cause of this syndrome is a mutation of the tumor suppressor (anti‑oncogenic) PTEN gene. These genes are responsible for regulating cell division. Cowden syndrome is often associated with breast cancer or thyroid cancer.
Diagnosis
Diagnosis of this disorder is based on the symptoms listed below as well as on genetic testing, in which a mutation of the tumor suppressor PTEN gene is detected. The occurrence of the disorder within the family is also important.
Treatment
Treatment of this disorder is purely symptomatic, meaning that efforts are focused on alleviating the symptoms of the syndrome.
- presence of hamartomatous lesions – hamartoma: a tumor‑like lesion arising from a tissue overgrowth
- trichilemmal cyst of the face (usually a benign subcutaneous cyst)
- macrocephaly (large head)
- increased risk of developing breast or thyroid tumors
- polyps in the gastrointestinal tract
- underdeveloped maxilla and mandible
- supernumerary ribs
- chest deformities
- lipomas (benign fatty tumors) in the subcutaneous tissue
- abnormal brain development, potentially leading to intellectual disability
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