Sandbox:Hamid

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Hamid Qazi, MD, BSc [2]

Historical Perspective

Discovery

It took a few years for Peutz-Jeghers syndrome to be described.

• Peutz-Jeghers syndrome was first discovered by Dr. Connor, a British, in 1895 in identical twin sisters.

• The association between gastrointestinal polyposis with distinctive pigmentation of the skin and Peutz-Jeghers syndrome was made in 1921 by Dr. Johannes Peutz of Holland.
• In 1949, Dr. Harold Jeghers of United States was the first to discover the association between combination of intestinal polyposis and skin pigmentation, and the development of Peutz-Jeghers syndrome.
• In 1954, A. Bruwer used the eponym Peutz-Jeghers syndrome
• In 1998, serine/threonine-protein kinase 11 alias LKB1 (STK11/LKB1) gene mutations were first implicated in the pathogenesis of Peutz-Jeghers syndrome.

Classification

• There is no established system for the classification of [disease name].

OR

• [Disease name] may be classified according to [classification method] into [number] subtypes/groups:
  • [Group1]
  • [Group2]
  • [Group3]
  • [Group4]

OR

• [Disease name] may be classified into [large number > 6] subtypes based on:
  • [Classification method 1]
  • [Classification method 2]
  • [Classification method 3]
• [Disease name] may be classified into several subtypes based on:
  • [Classification method 1]
  • [Classification method 2]
  • [Classification method 3]

OR

• Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.

OR

• If the staging system involves specific and characteristic findings and features:
• According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].

OR

• The staging of [malignancy name] is based on the [staging system].

OR

• There is no established system for the staging of [malignancy name].

Pathophysiology

Pathogenesis

• It is thought that Peutz-Jeghers syndrome is the result of deletion or partial deletion of STK11 (LBK1) gene, located on chromosome 19p13.3.
• STK11 protein plays an important role in second messenger signal transduction and is found to regulate cellular proliferation, controls cell polarity, and responds to low energy states.

Causes

Life-threatening Causes

• Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of disease name, however complications resulting from untreated disease name is common.
• Life-threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
• [Cause] is a life-threatening cause of [disease].

Common Causes

[Disease name] may be caused by:

• [Cause1]
• [Cause2]
• [Cause3]

OR

• [Disease name] is caused by an infection with [pathogen name].
• [Pathogen name] is caused by [pathogen name].

Epidemiology and Demographics

Prevalence

• The prevalence of Peutz-Jeghers syndrome is estimated to be 1 in 8300 to 250000
• Most likely prevalence is 1 in 100000

Age

• Adolescent and early adulthood.

Gender

• Males and females are equally affected.

Risk Factors

• There are no established risk factors for Peutz-Jeghers syndrome.

Screening

• There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

• According to the [guideline name], screening for [disease name] is not recommended.

OR

• According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with:
  • [Condition 1]
  • [Condition 2]
  • [Condition 3]

Natural History, Complications, and Prognosis

Natural History

• The symptoms of (disease name) usually develop in the first/ second/ third decade of life, and start with symptoms such as ___.
• The symptoms of (disease name) typically develop ___ years after exposure to ___.
• If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

Complications

• Common complications of [disease name] include:
  • [Complication 1]
  • [Complication 2]
  • [Complication 3]

Prognosis

• Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
• Depending on the extent of the [tumor/disease progression/etc.] at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor/good/excellent.
• The presence of [characteristic of disease] is associated with a particularly [good/poor] prognosis among patients with [disease/malignancy].
• [Subtype of disease/malignancy] is associated with the most favorable prognosis.
• The prognosis varies with the [characteristic] of tumor; [subtype of disease/malignancy] have the most favorable prognosis.