Cowden Syndrome - Medtick

Cowden Syndrome

What is it?

An inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body.

Persons with the syndrome usually have:

  • Large head (macrocephaly),
  • Benign tumors of the hair follicle (trichilemmomas)
  • White papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s.
  • It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes:
  • Persons who have Cowden syndrome are at an increased risk of developing certain types of cancer, such as breast, thyroid, and endometrial (lining of the uterus) cancer

NORD

Cause

  • Unknown
  • Mutations in the PTEN gene and are inherited in an autosomal dominant manner.
  • Family history

Symptoms

Skin changes mainly on face and around mouth:

  • Six or more facial Papules?
  • Three or more Skin tags?
  • Three or more thickened area of skin that is red, brown and yellow?
  • Three or more mouth ulcers?

Hands and feet:

  • Six or more thickened area of skin that is red, brown and yellow on hands or feet?
  • Wart like growths on hands or feet?

Complications /Information to beware of/General tips:

This condition can lead to:


This condition can show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Cowden Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

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  • National Organisation of Rare Diseases

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