Multiple hamartoma syndrome

Multiple hamartoma syndrome, also known as Cowden syndrome, is a rare genetic disorder characterized by the development of multiple noncancerous, tumor-like growths called hamartomas in various parts of the body. This condition is associated with an increased risk of developing certain types of cancer, particularly breast cancer, thyroid cancer, and endometrial cancer.

Genetics

Multiple hamartoma syndrome is primarily caused by mutations in the PTEN gene, which is a tumor suppressor gene. The PTEN gene provides instructions for making an enzyme that is involved in regulating cell division and preventing cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene can lead to the development of hamartomas and increase the risk of cancer.

Clinical Features

Individuals with multiple hamartoma syndrome may exhibit a variety of symptoms and signs, including:

• Multiple hamartomas in various tissues and organs
• Macrocephaly (an abnormally large head)
• Skin lesions such as trichilemmomas, papillomatous papules, and acral keratoses
• Oral mucosal lesions
• Gastrointestinal polyps
• Benign and malignant tumors of the breast, thyroid, and endometrium

Diagnosis

The diagnosis of multiple hamartoma syndrome is based on clinical criteria and genetic testing. The presence of multiple hamartomas, along with a family history of the syndrome or related cancers, may prompt genetic testing for mutations in the PTEN gene.

Management

Management of multiple hamartoma syndrome involves regular monitoring and screening for the development of cancers. This may include:

• Regular breast exams and imaging (such as mammograms or MRIs)
• Thyroid function tests and imaging
• Endometrial biopsies and imaging
• Dermatological evaluations for skin lesions

Related Conditions

Multiple hamartoma syndrome is part of a group of disorders known as PTEN hamartoma tumor syndromes (PHTS), which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome.

See Also

• Hamartoma
• PTEN
• Breast cancer
• Thyroid cancer
• Endometrial cancer
• PTEN hamartoma tumor syndromes
• Bannayan-Riley-Ruvalcaba syndrome
• Proteus syndrome