Cowden syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Historical Perspective
Cowden syndrome/ Cowden's disease/ multiple hamartoma syndrome follows autosomal dominant fashion of inheritance. Cowden syndrome was first described in 1940 by Salem and Steck.
Classification
There is no established system for the classification of cowden syndrome.
Pathophysiology
It is thought that cowden syndrome is the result caused by phosphatase and tensin homolog (PTEN) gene mutations. Cowden syndrome follows autosomal dominant pattern of inheritance.
Causes
The most common cause of cowden syndrome is PTEN gene mutations.
Differentiating cowden syndrome from Other Diseases
Cowden syndrome must be differentiated from the following Familial Adenomatous Polyposis, Peutz–Jeghers syndrome, Carney Syndrome and Hereditary Non–Polyposis Colon Cancer.
Epidemiology and Demographics
The incidence of rare disease cowden syndrome is approximately 1 in 250,000 individuals. The prevalence of cowden syndrome is unknown. The incidence of cowden syndrome increases with age. Cowden syndrome affects men and women equally.
Risk Factors
There are no established risk factors for cowden syndrome.
Screening
According to the National Comprehensive Cancer Network (NCCN) Guidelines, screening for cowden syndrome patients is recommended for women who are at risk for breast cancer, uterine cancer and colon cancer.
Natural History, Complications, and Prognosis
Cowden syndrome follows an autosomal dominant pattern of inheritance. If left untreated, patients with cowden syndrome may prone to develop manu cancers.Common complications of cowden syndrome include breast, colon cancer and endometrial cancer. Prognosis is generally ranges from excellent to poor.
Diagnosis
Diagnostic Study of Choice
Biopsy is the gold standard and definitive test for diagnosis of cowden syndrome. The diagnostic criteria of cowden syndrome is based on the Cowden syndrome/PHTS criteria which include Pilarski et al diagnostic criteria.
History and Symptoms
The hallmark of cowden syndrome is Trichilemmomas. A positive history of PTEN gene mutation is suggestive of cowden syndrome. The most common symptoms of cowden syndrome includetrichilemmomas, oral papillomas and acral keratoses is suggestive of cowden syndrome.