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
Cowden syndrome is an inherited disorder which follows autosomal dominant pattern. Cowden syndrome is characterized by multiple tumor-like growths called hamartomas. Most of the patients with cowden syndrome condition presents with hamartomas. These small, noncancerous growths are most commonly found on the skin and mucous membranes, but can also occur in the gastrointestinal tract and other parts of the body. People with Cowden syndrome are more prone to risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus. Women with Cowden syndrome have as much as a 25-50% lifetime risk of developing breast cancer.
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.
Physical Examination
Common physical examination findings of cowden syndrome include trichilemmomas, acral keratoses, and facial papules. The presence of trichilemmomas on physical examination is highly suggestive of cowden syndrome.
Laboratory Findings
Laboratory findings consistent with the diagnosis of cowden syndrome include skin biopsy, chemistry panels, urinalysis, thyroid function tests and cbc count.
Electrocardiogram
There are no ECG findings associated with Cowden syndrome.
X-ray
There are no x-ray findings associated with cowden syndrome.
Echocardiography and Ultrasound
There are ultrasound findings associated with cowden syndrome. Ultrasound may be helpful in the diagnosis of complications of cowden syndrome, which include testicular swelling, hydrocele, and hyperechoic masses of the testes.
CT scan
Head and neck CT scan may be helpful in the diagnosis of cowden syndrome. Findings on CT scan suggestive of cowden syndrome include enlarged thyroid lobes and calcifications.
MRI
Spine MRI may be helpful in the diagnosis of cowden syndrome. Findings on MRI suggestive of cowden syndrome include thoracolumbar scoliosis and disc disease.
Other Imaging Findings
There are no other imaging findings associated with cowden syndrome.
Other Diagnostic Studies
There are no other diagnostic studies associated with cowden syndrome.
Treatment
Medical Therapy
Due to different phenotypes cowden syndrome is likely to be an underdiagnosed condition. Pharmacologic medical therapy is recommended among patients with cutaneous manifestations in cowden syndrome.
Surgery
Surgery is not the first-line treatment option for patients with cowden syndrome. Surgery is usually reserved for patients with gastrointestinal polyps, Dysplastic Gangliocytoma and facial papules.
Primary Prevention
There are no established measures for the primary prevention of cowden syndrome.
Secondary Prevention
There are no established measures for the secondary prevention of cowden syndrome.