What is Cowden's syndrome?

Cowden syndrome is a rare disorder with an incidence of 1 in 200,000. People with this syndrome often have large heads, benign tumors of the hair follicles, and white papules with a smooth surface in the mouth that begin to appear in their late 20s. Cowden syndrome is an inherited condition that is linked associated with an increased risk of breast cancer and the very common oral papilloma. So what is Cowden's syndrome? The article will find out what is Cowden's syndrome?u about this syndrome.

Cowden syndrome is also known as benign multiple tumor syndrome. It is an inherited disease characterized mainly by noncancerous growths on different parts of the body.
Cowden syndrome is considered part of a group of benign tumor syndromes caused by mutations in the phosphatase and tensin homolog genes (PTEN) including Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome.
According to statistical research, Cowden syndrome is a rare disorder, affecting 1 in 200,000 people.

People with Cowden syndrome often present with a variety of noncancerous growths that can occur anywhere in the body, but the condition increases the risk of certain cancers. According to the report, Cowden syndrome is associated with a higher risk of thyroid, endometrial, and breast cancers.
Patients with Cowden's syndrome are also at high risk for kidney and colon cancer as well as melanoma.
In addition, Cowden syndrome is also associated with autism. According to the study, 23% of people diagnosed with autism spectrum disorder were found to have PTEN mutations. Children with autism have a 2% incidence of finding cancer-related PTEN mutations later in life.

Cowden syndrome has many signs and symptoms to recognize. However, the degree of appearance of the symptoms varies from person to person. Cowden syndrome includes the following features:
Intellectual disability: Developmental retardation, autism, low intelligence. Big head. If the child's head size is larger than the body, it is necessary to check for PTEN mutations There are abnormalities in blood vessels There are many lesions, papules on the skin surface. Dermatologists may note conditions such as: Benign basal cell tumors of the facial skin. Papillary lesions on facial skin and/or mucous membranes (eg, gums). Sometimes it appears on the tongue or gums (the phenomenon of "cobblestone" tongue). Keratosis palms - feet. Tumors often tend to grow larger, can be benign or malignant. Benign breast, thyroid and endometrial diseases. Occasionally, the tumor can be breast cancer. Rarely, a noncancerous brain tumor is called Lhermitte-Duclos disease.

Cowden syndrome results from mutations in the PTEN gene responsible for tumor suppression. This gene makes a protein called phosphatase that regulates cell growth. Mutations of the PTEN gene cause problems in regulating the growth of cells, leading to a crisis of excess cells and causing this syndrome.
Cowden syndrome is an autosomal dominant disorder which means that when a child inherits only one copy of the defective gene from one parent, the disease develops.

Cowden syndrome is a risk factor for various diseases, especially cancer. Therefore, patients need to take the initiative to take care of their health by going to regular check-ups to check their health and screen for cancer. The recommended screening requirements for Cowden syndrome are as follows:
Cancer screening for women:
Breast self-exams starting at age 18 Clinical breast exams every 6-12 months, starting at age 25 up Annual mammograms and breast MRIs beginning at age 30-35 and older Annual screening for endometrial cancer with ultrasound and/or random biopsy may be initiated at age 30-35 Prophylactic surgery may be considered a preventive option for some forms of cancer. Cancer screening for men and women:
Annual wellness check-ups starting at age 18 and older Annual thyroid ultrasound starting at age 18 and older Basic colonoscopy at age 35 and follow-up 5 Once a year (more often if polyps are identified) Consider renal ultrasound every 1-2 years, starting at age 40. Pediatric (age <18 years) Annual thyroid ultrasound (in people with confirmed PTEN pathogenic variant) Annual skin exam with physical exam Neurodevelopmental assessment If no symptoms , you need to be tracked. Skin lesions should be excluded only when malignancy is suspected or symptoms (eg, pain, deformity, increased scarring) are severe. When symptomatic, topical medications (eg, 5-fluorouracil), curettage, cryotherapy, or laser ablation may be used for temporary relief.
Early cancer screening is considered a perfect measure in the timely detection and treatment of all types of cancer. Vinmec International General Hospital currently has a high-tech cancer screening and examination package, including genetic testing, imaging, and biomarkers for early tumor detection. A single gene test can assess the risk of 16 common cancers in both men and women (lung cancer, colorectal cancer, breast cancer, pancreatic cancer, cervical cancer) Bowel cancer , stomach cancer , prostate cancer ,....)