Cowden syndrome is a condition that increases the risk of developing certain types of cancer. People diagnosed with Cowden's disease are at risk of developing the disease, including for thyroid and bladder cancer. Women also have an increased risk of developing breast and uterine cancer. What are the causes and symptoms of Cowden syndrome? Is it possible to cure this disease?

Cowden syndrome , like Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome, belongs to the group of syndromes of hereditary predisposition to cancer. This means that people who struggle with this type of syndrome have a much higher risk of developing certain types of cancer than he althy people.Cowden diseaseincreases the risk of developing non-cancerous tumors (e.g.colon polyps ) and benign tumors (e.g. thyroid adenomas anduterine fibroids ) , as well as malignant ones, including breast and nipple cancer (up to 50%),thyroid cancer , uterus, kidney, bladder, skin and central nervous system cancer nervous.

Cowden's syndrome affects 1: 200,000 people. In 90 percent. the disease is diagnosed before the age of 20.

Cowden syndrome - causes

There are several heritable genetic mutations associated with Cowden syndrome. Scientists from the Cleveland Clinic (USA) believe that a mutation in the succinate dehydrogenase (SDH) gene is responsible for the development of cancer in patients with this rare disease. However, in most cases (80%) the disease is caused by a mutation of the PTEN gene, located on the long arm of chromosome 10. The PTEN gene is a tumor suppressor gene (similar to, for example, the BRCA1 geneassociated with breast cancer). It normally protects cells against rapid and uncontrolled growth, but if it is absent or mutated, uncontrolled cell division may occur, and therefore the risk of developing cancer cells increases significantly. Other mutations may be in the SDHB and KLLN genes. The disease is inherited in an autosomal dominant fashion. This means that one normal copy and one defective copy of the gene are inherited. However, the mutant copy of the gene dominates the normal copy, causing the person who inherits the gene to suffer from a genetic condition.

Cowden team -symptoms

The symptoms of the disease are numerous lesions of the skin, mucous membranes and internal organs (e.g. lungs, intestines) called hamartoma foci. These are non-neoplastic tumors which are a developmental disorder. In 80 percent In patients with this syndrome, skin color changes occur in the middle of the face and around the labia. Within the cheek mucosa, smooth, confluent lumps similar to "cobblestones" can be recognized.

In addition,fibrocystic changes in the breast , ovary, thyroid or nipple adenomas are often found. Adults may also develop Lhermitte-Duclos disease (it is a cerebellar dysplastic tumor). However, the most dangerous coexisting neoplasm isbreast cancer , which develops in about 30 percent. of women diagnosed with Cowden's syndrome.

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Occasionally, mental retardation (IQ ≤75) is also observed.

Cowden syndrome - treatment

The causal treatment of genetic diseases is not possible, therefore only therapy aimed at alleviating the symptoms of the disease is used. Due to the complex nature of the disease, the patient requires consultation with doctors of many speci alties.

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Vitamin E may reduce the risk of developing cancer in patients with Cowden syndrome

Scientists at the Cleveland Clinic Institute of Genetic Medicine in Ohio (USA) have found that vitamin E can reduce the risk of developing cancer in patients suffering from this rare disease. According to the researchers, the development of cancer in patients with Cowden syndrome is caused by a mutation in the succinate dehydrogenase (SDH) gene, which leads to the accumulation of reactive oxygen species in cells. As a consequence, he althy cells that are not involved in the process of apoptosis (the death of a worn out or damaged cell) are damaged, and thus are not removed from the body. However, scientists argue that after using vitamin E, the amount of damage in mutant cells is reduced. Therefore, vitamin E can be used in patients with Cowden syndrome as an effective, therapeutic or preventive anti-cancer agent.

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Genetic diseases