Guide To The Symptoms Of Cowden Syndrome

Cowden syndrome is a genetic condition where an individual develops numerous hamartomas or noncancerous growths on multiple parts of their body and are at an increased risk for certain types of cancer. Cowden syndrome is the result of one or more PTEN tumor suppressor gene mutations in most cases. Mutations in genes that supply the code for producing certain proteins result in the formation of the hamartomas and higher vulnerability to certain cancers in Cowden syndrome.

One or more mutations in the KLLN, SDHC, PIK3CA, SDHB, SDHD, and AKT1 genes can also cause Cowden syndrome. Cowden syndrome is diagnosed with clinical criterion or genetic testing that reveals a positive result for any of the gene mutations known to cause Cowden syndrome. Treatment for Cowden syndrome focuses on diligent, thorough cancer screening and management of any symptoms benign tumors may cause.

Skin Lesions And Spots

An individual affected by Cowden Syndrome may develop skin lesions and spots. Between ninety and one hundred percent of all Cowden syndrome cases have involvement in the individual's skin. The most common forms of skin spots and lesions in Cowden syndrome patients are acral keratoses, cutaneous facial papules, palmoplantar keratoses, and oral mucosal papillomatosis. Acral keratosis is a term used to describe papules that appear on the upper surfaces of the feet and hands that exhibit a smooth or warty texture and a slightly pigmented color. 

Cutaneous facial papules are fibrous papules that are flat-topped, dry, warty, flesh-colored, and between one and five millimeters in size. They are located around the patient's mouth, eyes, and nostrils. Palmoplantar keratosis is a term used to describe spots that appear on the soles and palms where the skin has become abnormally thickened. Oral mucosal papillomatosis is a mass that covers the tongue and appears similar to a cauliflower shape with a white color that may or may not be cancerous. It is rare for a Cowden syndrome patient to not exhibit at least one of these four skin lesions or spots.