COWDEN SYNDROME

By Gary M. White, MD

Cowden Syndrome


Cowden’ syndrome--also known as multiple hamartoma syndrome--is an overgrowth syndrome which combines cutaneous growths or hamartomas and the risk of internal malignancy. Inheritance is AD. (The name of the disease came from the first affected patient, Rachel Cowden). Approximately 80% of patients have a mutation in the PTEN gene on chromosome 10.

Clinical

Multiple papules which are trichilemmomas occur in Cowden syndrome and may appear as multiple flesh-colored, facial, flat-topped or verrucous papules in a periorificial distribution. Oral mucosal papillomatosis of the lips and tongue may take on a cobble-stone appearance. Sclerotic fibromas and acral keratoses may occur.

How patients may present

A 33-year-old woman presents with a 10 year history of warty papules on her hands, face and neck. A 22-year-old man presented with a complaint of multiple papules on the lips, which had been noticed the previous year.

Non-Skin Features

There is an increased risk of thyroid, breast and other cancers. Risk of breast cancer in women has been estimated as high as 50%. Polyps may occur anywhere in the gastrointestinal tract. They may be hamartomatous, juvenile, lipomatous or inflammatory. They appear to pose no risk for malignant change and thus do not warrant clinical surveillance. Cowden syndrome is associated with an increased risk for breast cancer as well as breast hamartomas which are densely scarred breast lesions. When the breast cancer develops, it develops in relation to a hamartoma.

Treatment

Genetic counseling is in order. Patients require lifelong tumor surveillance by multiple specialists.

For the facial trichilemmomas, dermabrasion has been tried. Isotretinoin has been reported to flattened the facial papules during treatment. Screening strategies should emphasize thyroid, breast and endometrial examination.

Additional Pictures

Facial trichilemmomas.
Cowden Syndrome

References

Cowden Syndrome. Dermatology Online Journal 16 (1): 7

Indian J Dermatol Venereol Leprol 2012;78:230


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