Peutz–Jeghers syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Peutz–Jeghers syndrome | |||
| image = [[File:Manifestations_of_Peutz-Jeghers_syndrome.png|250px]] | |||
| caption = Manifestations of Peutz–Jeghers syndrome | |||
| field = [[Gastroenterology]], [[Genetics]] | |||
| synonyms = PJS | |||
| symptoms = [[Hamartomatous polyps]], [[mucocutaneous pigmentation]] | |||
| complications = [[Intussusception]], [[gastrointestinal bleeding]], increased risk of [[cancer]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[STK11]] gene | |||
| risks = Family history of the syndrome | |||
| diagnosis = [[Genetic testing]], [[endoscopy]], [[colonoscopy]] | |||
| differential = [[Juvenile polyposis syndrome]], [[Cowden syndrome]] | |||
| prevention = Regular surveillance and screening | |||
| treatment = [[Surgical removal]] of polyps, [[cancer surveillance]] | |||
| medication = None specific, symptomatic treatment | |||
| prognosis = Variable, depends on complications and cancer risk | |||
| frequency = 1 in 25,000 to 300,000 live births | |||
| deaths = Related to complications and cancer | |||
}} | |||
[[File:Peutz-Jeghers_syndrome_polyp.jpg|Peutz–Jeghers syndrome polyp|thumb]] | |||
[[File:Pjs.PNG|Peutz–Jeghers syndrome|thumb|left]] | |||
[[File:PJS_Natural_History.jpg|Natural history of Peutz–Jeghers syndrome|thumb]] | |||
[[File:Multiple_polyps_and_at_large_mass_at_the_hepatic_flexure.jpg|Multiple polyps and large mass at the hepatic flexure|thumb|left]] | |||
'''Peutz–Jeghers syndrome''' ('''PJS''') is a [[genetic disorder]] that causes [[gastrointestinal polyps]] and pigmented [[macules]] on the lips and oral mucosa. It is named after the two doctors, [[Jan Peutz]] and [[Harold Jeghers]], who first described the condition. | '''Peutz–Jeghers syndrome''' ('''PJS''') is a [[genetic disorder]] that causes [[gastrointestinal polyps]] and pigmented [[macules]] on the lips and oral mucosa. It is named after the two doctors, [[Jan Peutz]] and [[Harold Jeghers]], who first described the condition. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The most common symptoms of PJS are [[abdominal pain]], [[rectal bleeding]], and [[anemia]]. These symptoms are often caused by [[intestinal obstruction]] due to the polyps. The pigmented macules on the lips and oral mucosa are usually present from birth or early childhood. | The most common symptoms of PJS are [[abdominal pain]], [[rectal bleeding]], and [[anemia]]. These symptoms are often caused by [[intestinal obstruction]] due to the polyps. The pigmented macules on the lips and oral mucosa are usually present from birth or early childhood. | ||
== Causes == | == Causes == | ||
PJS is caused by mutations in the [[STK11]] gene. This gene provides instructions for making an enzyme that helps regulate cell growth and division. Mutations in the STK11 gene disrupt the enzyme's function, leading to the formation of polyps and other features of PJS. | PJS is caused by mutations in the [[STK11]] gene. This gene provides instructions for making an enzyme that helps regulate cell growth and division. Mutations in the STK11 gene disrupt the enzyme's function, leading to the formation of polyps and other features of PJS. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of PJS is based on clinical findings, family history, and genetic testing. The [[World Health Organization]] criteria for the diagnosis of PJS includes any one of the following: | The diagnosis of PJS is based on clinical findings, family history, and genetic testing. The [[World Health Organization]] criteria for the diagnosis of PJS includes any one of the following: | ||
* Three or more Peutz-Jeghers type polyps of the small intestine. | * Three or more Peutz-Jeghers type polyps of the small intestine. | ||
* Any number of Peutz-Jeghers type polyps of the small intestine with a family history of PJS. | * Any number of Peutz-Jeghers type polyps of the small intestine with a family history of PJS. | ||
* Characteristic mucocutaneous pigmentation with a family history of PJS. | * Characteristic mucocutaneous pigmentation with a family history of PJS. | ||
== Treatment == | == Treatment == | ||
There is no cure for PJS, but the symptoms can be managed with regular monitoring and treatment of polyps. This often involves [[endoscopy]] to remove polyps and prevent complications. Genetic counseling may also be beneficial for individuals with PJS and their families. | There is no cure for PJS, but the symptoms can be managed with regular monitoring and treatment of polyps. This often involves [[endoscopy]] to remove polyps and prevent complications. Genetic counseling may also be beneficial for individuals with PJS and their families. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with PJS is generally good, but they have an increased risk of developing certain types of cancer, including [[gastrointestinal cancer]], [[breast cancer]], and [[ovarian cancer]]. Regular monitoring and early detection of these cancers can improve the prognosis. | The prognosis for individuals with PJS is generally good, but they have an increased risk of developing certain types of cancer, including [[gastrointestinal cancer]], [[breast cancer]], and [[ovarian cancer]]. Regular monitoring and early detection of these cancers can improve the prognosis. | ||
== See Also == | == See Also == | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Gastrointestinal polyps]] | * [[Gastrointestinal polyps]] | ||
* [[STK11]] | * [[STK11]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
== External Links == | == External Links == | ||
* [https://www.wikimd.com/wiki/Peutz–Jeghers_syndrome WikiMD: Peutz–Jeghers syndrome] | * [https://www.wikimd.com/wiki/Peutz–Jeghers_syndrome WikiMD: Peutz–Jeghers syndrome] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Gastrointestinal diseases]] | [[Category:Gastrointestinal diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 10:16, 13 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Peutz–Jeghers syndrome | |
|---|---|
| |
| Synonyms | PJS |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hamartomatous polyps, mucocutaneous pigmentation |
| Complications | Intussusception, gastrointestinal bleeding, increased risk of cancer |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the STK11 gene |
| Risks | Family history of the syndrome |
| Diagnosis | Genetic testing, endoscopy, colonoscopy |
| Differential diagnosis | Juvenile polyposis syndrome, Cowden syndrome |
| Prevention | Regular surveillance and screening |
| Treatment | Surgical removal of polyps, cancer surveillance |
| Medication | None specific, symptomatic treatment |
| Prognosis | Variable, depends on complications and cancer risk |
| Frequency | 1 in 25,000 to 300,000 live births |
| Deaths | Related to complications and cancer |
Peutz–Jeghers syndrome (PJS) is a genetic disorder that causes gastrointestinal polyps and pigmented macules on the lips and oral mucosa. It is named after the two doctors, Jan Peutz and Harold Jeghers, who first described the condition.
Signs and Symptoms[edit]
The most common symptoms of PJS are abdominal pain, rectal bleeding, and anemia. These symptoms are often caused by intestinal obstruction due to the polyps. The pigmented macules on the lips and oral mucosa are usually present from birth or early childhood.
Causes[edit]
PJS is caused by mutations in the STK11 gene. This gene provides instructions for making an enzyme that helps regulate cell growth and division. Mutations in the STK11 gene disrupt the enzyme's function, leading to the formation of polyps and other features of PJS.
Diagnosis[edit]
The diagnosis of PJS is based on clinical findings, family history, and genetic testing. The World Health Organization criteria for the diagnosis of PJS includes any one of the following:
- Three or more Peutz-Jeghers type polyps of the small intestine.
- Any number of Peutz-Jeghers type polyps of the small intestine with a family history of PJS.
- Characteristic mucocutaneous pigmentation with a family history of PJS.
Treatment[edit]
There is no cure for PJS, but the symptoms can be managed with regular monitoring and treatment of polyps. This often involves endoscopy to remove polyps and prevent complications. Genetic counseling may also be beneficial for individuals with PJS and their families.
Prognosis[edit]
The prognosis for individuals with PJS is generally good, but they have an increased risk of developing certain types of cancer, including gastrointestinal cancer, breast cancer, and ovarian cancer. Regular monitoring and early detection of these cancers can improve the prognosis.
See Also[edit]
References[edit]
<references />
