Cowden Syndrome
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What is Cowden syndrome?Cowden syndrome is a rare disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. Abnormal growths on the skin and mucous membranes typically appear by a person's late twenties. People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and the lining of the uterus (the endometrium). Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head (macrocephaly); a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation. How common is Cowden syndrome?Researchers estimate that Cowden syndrome affects about 1 in 200,000 people; however, the exact prevalence of this condition is unknown because it can be difficult to diagnose. What genes are related to Cowden syndrome?Mutations in the PTEN gene cause Cowden syndrome. PTEN is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the PTEN gene have been identified in about 85 percent of people with Cowden syndrome. These mutations, which affect all of the body's cells, prevent the PTEN protein from effectively regulating cell survival and division. Uncontrolled cell division can lead to the formation of hamartomas and cancerous tumors. The cause of the remaining Cowden syndrome cases is unknown. Mutations in a region of DNA that regulates the activity of the PTEN gene may be responsible for some cases of this condition. How do people inherit Cowden syndrome?This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous and cancerous tumors. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Source: National Institutes of Health
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Scientists at Hanyang University, Department of Dermatology publish research in hamartoma
2007 FEB 27 -- Data detailed in "Case of Cowden syndrome associated with eccrine angiomatous hamartoma" have been presented. "Cowden syndrome, also known as multiple hamartoma syndrome is a rare autosomal dominant disorder characterized by multiple hamartomatous tumors of ectodermal, mesodermal and endodermal origin. A 47-year-old woman had a skin-colored plaque on the left foot," scientists in Seoul, Korea report. "She had total abdominal hysterectomy due to uterine leiomyoma at the age of 35, and had modified radical mastectomy due to right breast cancer at 38. Thyroid adenoma was diagnosed at age 46. Physical examinations revealed macrocephaly, multiple papules of the buccal mucosa, skin tags of the neck and multiple keratotic papules of both hands. Multiple gastrointestinal polyps were detected on gastrofiberoscopy and colonoscopy. Histological examination of the skin lesion on the left foot showed an increased numbers of eccrine sweat glands and blood vessels, which are characteristic histological findings of eccrine angiomatous hamartoma (EAH), a rare benign tumor," wrote J.G. Oh and colleagues, Hanyang University, Department of Dermatology. The researchers concluded: "We present a case of Cowden syndrome with an associated EAH, which has not been described in the English literatures." Oh and colleagues published their study in the Journal of Dermatology (Case of Cowden syndrome associated with eccrine angiomatous hamartoma. Journal of Dermatology, 2007;34(2):135-7). For additional information, contact J.G. Oh, Hanyang University, Dept. of Dermatology, College of Medicine, Seongdong-Gu, Seoul, Korea. The publisher's contact information for the Journal of Dermatology is: Japanese Dermatolgical Association, Taisei-Bldg., 14-10 Hongo 3-CHOME, Bunkyo-Ku, Tokyo, 113-0033, Japan. Keywords: Korea, Seoul, Dermatology, Hamartoma. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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