- Cowden disease
- Cowden's disease
- Multiple hamartoma syndrome
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People affected by Cowden syndrome also have an increased risk of developing certain types of cancer. Breast, thyroid and endometrial (the lining of the uterus) cancers are among the most commonly reported tumors. Other associated cancers include colorectal cancer, kidney cancer and melanoma. People with Cowden syndrome often develop cancers at earlier ages (before age 50) than people without a hereditary predisposition to cancer.
Other signs and symptoms of Cowden syndrome may include benign diseases of the breast, thyroid, and endometrium; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; an enlarged head (macrocephaly); autism spectrum disorder; intellectual disability; and vascular (the body's network of blood vessels) abnormalities.
The Human Phenotype Ontology provides the following list of signs and symptoms for Cowden syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Charis Eng, MD, PhD. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. January 2014; http://www.ncbi.nlm.nih.gov/books/NBK1488/.
- Katherine H Fiala, MD. Cowden Disease (Multiple Hamartoma Syndrome). Medscape Reference. February 2014; http://emedicine.medscape.com/article/1093383-overview.
- Mary B. Daly, MD, PhD; Robert Pilarski, MS, CGC. Genetic/Familial High-Risk Assessment: Breast and Ovarian. National Comprehensive Cancer Network. February 2014; Accessed 3/10/2015.