Cowden Disease which is also known by the name of Cowden Syndrome or Multiple Hamartoma Syndrome is a congenital dysfunction of the autosomal dominant type which is developed due to mutation of the PTEN gene. Some of the other diseases which have PTEN gene mutation are Bannayan-Riley-Ruvulcaba Syndrome and Proteus Syndrome. Cowden Disease results in hamartomatous neoplasms of skin and mucosa, GI tract, bones, central nervous system, and the GU tract. Majority of cases of Cowden Disease involves the skin and in some cases the thyroid is also involved.

What is Cowden Disease?

What Is The Cause Of Cowden Disease?

As stated, Cowden Disease develops as a result of the mutation of gene PTEN which is a tumor supressor gene. This gene produces protein called phosphatase and functions by regulating cell growth. It is an autosomal dominant type disorder which means that the child has to inherit only one copy of the defective gene from one parent to get this disease. Due to mutation of the PTEN gene, there is a malfunction of the regulation of cells resulting in overproduction of cells and thus formation of a growth and other associated symptoms.

What Are The Symptoms Of Cowden Disease?

Some of the symptoms of Cowden Disease are presence of cutaneous facial papules. These papules may be flesh-colored and elongated. These papules may have a diameter of about 6 mm. There may be multiple such papules present usually in the periorificial region. In some cases there may also be oral lesions present as well.

How Is Cowden Disease Diagnosed?

Since a large number of people with Cowden Disease are predisposed to hamartoma and various malignancies, hence it is imperative to monitor such patients very closely with frequent laboratory evaluations to look for any abnormalities. For diagnosing Cowden Disease, the following tests may be done.

CBC Count: If an individual is severely anemic then it may be indicative of a malignant disorder hence periodic complete blood count is checked to look for any signs of anemia in people suspected of having Cowden Disease.

Thyroid Function Tests: Cowden Disease also causes thyroid disorder and hence periodic thyroid test is required for people suspected of Cowden Disease.

Urinalysis: Urinalysis is also done to check for proteinuria and hematuria suggestive of a kidney dysfunction

Blood Chemistry: A detailed chemistry is also checked of the patient suspected of having Cowden Disease including liver function tests and calcium levels to look for any abnormality in the liver.

Skin Biopsy: A skin biopsy of the lesions is absolutely vital for the diagnosis of Cowden Disease.

What Is The Treatment For Cowden Disease?

The best way to keep Cowden Disease in check is by carrying out a detailed history and physical examination along with the above mentioned tests at least on an annual basis to keep the disease in check. For females, self-breast examination should be done on a six monthly basis starting as early as 18 or 19 years of age. Apart from this, the following may be done to keep Cowden Disease under control:

  • Annual mammography along with breast MRI when reaching 35 years of age in females
  • If Cowden Disease is severe then prophylactic mastectomy can be done
  • The patient suffering from Cowden Disease needs to conduct periodic dermatologic examination
  • At the age of 35, a female with Cowden disease needs to conduct an endometrial biopsy
  • There are certain systemic treatments available for treatment of the oral lesions that are present with Cowden Disease however these lesions tend to reoccur when the treatment is stopped.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 23, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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