Cowden Syndrome life expectancy – A Rare Genetic Disease

Cowden Syndrome life expectancy – A Rare Genetic Disease

Cowden syndrome has defined by Doctor Rachael Cowden in year 1963. This disease affects in 1 of 200.000 people. It is an autosomal dominant inherited syndrome. In this syndrome, on the skin and mucous membranes, some benign tumors may seen. These benign tumors have risk for malignancy over time also. According to statistics, persons with cowden disease may likely to develop breast, thyroid and uterine cancer than the normal population.

Cowden Syndrome genetics:

Studies have shown that mutations in the PTEN gene can cause this disease. PTEN gene is a tumor suppressor gene that is located on chromosome 10. This gene encodes a protein that ensure protein tyrosine phosphatase activity. Because of autosomal dominant inheritance, one of the parent must be affected from this disease. The fresh mutation rate of PTEN gene is about %10.7 to %47.6 in this disease. So in de novo mutation patients the parents have not carrying this disease. With it, the other common mutations are SDHD, SDHB and KLLN gene mutations for this disease.

Cowden Syndrome symptoms:

  • Decreased melanin pigment level on skin may occur.
  • Mucosal lesions have reported. If the mucosal area have affected, lip and mouth wounds can seen also.
  • Cafe au lait spots that we often seen in the neurofibromatosis disease may also seen in this disease.
  • Can develop polyps in the intestinal mucosa.
  • Cognitive impairments can seen in these patients also.
  • Other than these, hamartomas can accompany the disease.
  • In some cases, abdominal swelling may occur.
  • Increased risk of developing endometrial cancer %28, hemangiomas %28, colon cancer %9, melanoma %6, renal cell carcinoma %33, breast cancer %35 and thyroid cancer %9. The lifetime risk of breat cancer rate is %83.
  • The incidence of autism increases.
  • Macrocephaly; the head is bigger than normal size.
  • Macular hypopigmentation area in glans penis.
  • Multiple palmoplantar keratosis; abnormal thickening of hand and feet skin.
  • Lipomas (benign soft tissue tumor) may seen also more than normal population.

Cowden Syndrome treatment:

There is no cure for this disease yet. Although it is known that protein kinase inhibitor drugs such as rapamycin have been used in studies and progress has been recorded also, but there have not a standard procedure to use this drug for treatment. It is very important to use sunscreen clothes and sunscreen lotions to protect against melanomas. Carbon dioxide laser ablation, interferon 2 alpha, 5-fluorouracil and surgical removement for mucocutaneous lesions is useful. Prophylactic mastectomy should performed to these patients because of high breast cancer risk.

Cowden Syndrome life expectancy:

The average life expectancy of these patients is about 30 to 50 years of age due to cancer development. For this reason, precautions should be taken against the development of cancer and these patient should be followed-up regularly.

To read about Alagille’s Syndrome click this link

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