Dec 5, 2008

Encyclopedia of Genetic Disorders | Peutz-Jeghers syndrome

Definition

Peutz-Jeghers syndrome (PJS) is named after two doctors who first studied and described it in 1921. It is an association of three very specific conditions in any one person. The first condition is the appearance of freckles on parts of the body where freckles are not normally found. The second condition is the presence of multiple gastrointestinal polyps. The third condition is a risk, greater than the risk seen in the general population, of developing certain kinds of cancers.

Description

The freckles associated with PJS are dark brown, dark blue, or greenish black. In almost all people with PJS, these freckles are present at birth on the lining of the cheeks inside the mouth. By the time most children reach one or two years old, freckles develop around the lips, nostrils, eyes,...

[The entire page is 3060 words long]

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