Cowden syndrome overview: Difference between revisions

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==Causes==
==Causes==
The most common [[Causes|cause]] of [[cowden syndrome]] is [[PTEN (gene)|PTEN]] [[gene]] [[mutations]].


==Differentiating Xyz from Other Diseases==
==Differentiating Xyz from Other Diseases==

Revision as of 16:16, 21 March 2019

Cowden syndrome Microchapters

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Epidemiology and Demographics

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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 Xyz from Other Diseases

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

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

References


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