Sandbox:Hamid

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

Overview

Historical Perspective

===Discovery===^[1]^[2]

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 Peutz-Jeghers syndrome.

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.^[1]
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.
In Mammalian studies, STK11 is shown in the inhibition of AMP-activated protein kinase (AMPK), and signals downstream to inhibit the mammalian target of rapamycin (mTOR).^[1]
- The mTOR pathway is dysregulated in Peutz-Jeghers syndrome.

Pathology

Peutz-Jeghers syndrome associated polyps have a unique smooth muscle core that arborizes throughout the polyp.^[1]
- These polyps can only be differentiated from other polyp types by histopathology.

Causes

Peutz-Jeghers syndrome is caused by STK11 gene mutation
Variable penetrance

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

Peutz-Jeghers syndrome affects individuals between the ages of 10 to 30 years; average age of diagnosis is 23 years for males and 26 years for females.

Gender

Males and females are equally affected.

Risk Factors

There are no established risk factors for Peutz-Jeghers

Screening

According to the American College of Gastroenterology (ACG) and the National Comprehensive Cancer Network (NCCN), screening for Peutz-Jeghers syndrome by physical exam, complete blood work for iron deficiency anemia, and endoscopy are recommended every year among patients with Peutz-Jeghers Syndrome.

Natural History, Complications, and Prognosis

Natural History

The symptoms of Peutz-Jeghers syndrome usually develop in the first decade of life, and start with symptoms such as hyperpigmentation, abdominal pain, and rectal bleeding.
If left untreated, patients with Peutz-Jeghers syndrome may progress to develop colon cancer, breast cancer, and gastrointestinal cancers.
Extraintestinal manifestation include pancreatic, lung, breast, uterine, ovarian and testicular malignancies.

Complications

Common complications of Peutz-Jeghers syndrome include:
- Intussusception
- Gastric outlet obstruction
- Extraintestinal polyps

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.

BMPR1A | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Adenoma+

Inguinal+

Inguinal+

MSH2

MSH3

MSH6

PMS1

PMS2 | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Adenoma+ | style="background: #F5F5F5; padding: 5px;" |Endometrial, gastric, renal pelvis, ureter, and ovarian | style="background: #F5F5F5; padding: 5px;" |Sebaceous adenoma |}

Use if the above table can not be made


Differential Diagnosis	Similar Features	Differentiating Features

Juvenile Polyposis Syndrome	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Cowden Syndrome	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Carney Syndrome	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Familial Adenomatous Polyposis	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Hereditary Non-Polyposis Colon Cancer	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].	On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].

References

↑ ^1.0 ^1.1 ^1.2 ^1.3 Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.
↑ Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.

Overview

The page name should be "[Disease name] diagnostic study of choice", with only the first letter of the title capitalized. Note that the page is called "Diagnostic study of choice."
Goal:
- To describe the most efficient/sensitive/specific test that is utilized for diagnosis of [disease name].
- To describe the gold standard test for the diagnosis of [disease name].
- To describe the diagnostic criteria, which may be based on clinical findings, physical exam signs, pathological findings, lab findings, findings on imaging, or even findings that exclude other diseases.
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Diagnostic Study of Choice

Template statements

Gold standard/Study of choice:

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
The following result of [gold standard test] is confirmatory of [disease name]:
- Result 1
- Result 2
The [name of investigation] should be performed when:
- The patient presented with symptoms/signs 1. 2, 3.
- A positive [test] is detected in the patient.
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
The diagnostic study of choice for [disease name] is [name of investigation].
There is no single diagnostic study of choice for the diagnosis of [disease name].
There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
[Disease name] is mainly diagnosed based on clinical presentation.
Investigations:
- Among patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
- Among patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
- Among patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

The comparison table for diagnostic studies of choice for [disease name]

	Sensitivity	Specificity
Test 1	✔	...%
Test 2	...%	✔

✔= The best test based on the feature

Diagnostic results

The following result of [investigation name] is confirmatory of [disease name]:

Result 1
Result 2

Sequence of Diagnostic Studies

The [name of investigation] should be performed when:

The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
A positive [test] is detected in the patient, to confirm the diagnosis.

Diagnostic Criteria

Here you should describe the details of the diagnostic criteria.
Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
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Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
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[Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].

[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
- Criteria 1
- Criteria 2
- Criteria 3

IF there are clear, established diagnostic criteria:

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

IF there are no established diagnostic criteria:

There are no established criteria for the diagnosis of [disease name].

References

References should be cited for the material that you have put on your page. Type in {{reflist|2}}.This will generate your references in small font, in two columns, with links to the original article and abstract.
For information on how to add references into your page, click here.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:

Overview

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

History and Symptoms

Symptoms of Peutz-Jegher syndrome include abnormal pigmentation of the oral mucosa, abdominal pain, blood in stool, and extrusion of anal polyp.

History

Patients with Peutz-Jegher syndrome may have a positive history of:

Intussesception at a young age

References

Template:WH Template:WS

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor(s)-in-Chief:

Overview

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Physical Examination

Physical examination of patients with [disease name] is usually remarkable for:[finding 1], [finding 2], and [finding 3].
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Appearance of the Patient

Patients with [disease name] usually appear [general appearance].

Vital Signs

High-grade / low-grade fever
Hypothermia / hyperthermia may be present
Tachycardia with regular pulse or (ir)regularly irregular pulse
Bradycardia with regular pulse or (ir)regularly irregular pulse
Tachypnea / bradypnea
Kussmal respirations may be present in _____ (advanced disease state)
Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
High/low blood pressure with normal pulse pressure / wide pulse pressure / narrow pulse pressure

Skin

Description (Adapted from Dermatology Atlas)

Description (Adapted from Dermatology Atlas)
Description (Adapted from Dermatology Atlas)

HEENT

Abnormalities of the head/hair may include ___
Evidence of trauma
Icteric sclera
Nystagmus
Extra-ocular movements may be abnormal
Pupils non-reactive to light / non-reactive to accomodation / non-reactive to neither light nor accomodation
Ophthalmoscopic exam may be abnormal with findings of ___
Hearing acuity may be reduced
Weber test may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
Rinne test may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
Exudate from the ear canal
Tenderness upon palpation of the ear pinnae / tragus (anterior to ear canal)
Inflamed nares / congested nares
Purulent exudate from the nares
Facial tenderness
Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae

Neck

Jugular venous distension
Carotid bruits may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
Lymphadenopathy (describe location, size, tenderness, mobility, and symmetry)
Thyromegaly / thyroid nodules
Hepatojugular reflux

Lungs

Asymmetric chest expansion / Decreased chest expansion
Lungs are hypo/hyperresonant
Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally
Rhonchi
Vesicular breath sounds / Distant breath sounds
Expiratory/inspiratory wheezing with normal / delayed expiratory phase
Wheezing may be present
Egophony present/absent
Bronchophony present/absent
Normal/reduced tactile fremitus

Heart

Chest tenderness upon palpation
PMI within 2 cm of the sternum (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
Heave / thrill
Friction rub
S1
S2
S3
S4
Gallops
A high/low grade early/late systolic murmur / diastolic murmur best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope

Abdomen

Abdominal distention
Abdominal tenderness in the right/left upper/lower abdominal quadrant
Rebound tenderness (positive Blumberg sign)
A palpable abdominal mass in the right/left upper/lower abdominal quadrant
Guarding may be present
Hepatomegaly / splenomegaly / hepatosplenomegaly
Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test

Back

Point tenderness over __ vertebrae (e.g. L3-L4)
Sacral edema
Costovertebral angle tenderness bilaterally/unilaterally
Buffalo hump

Genitourinary

A pelvic/adnexal mass may be palpated
Inflamed mucosa
Clear/(color), foul-smelling/odorless penile/vaginal discharge

Neuromuscular

Patient is usually oriented to persons, place, and time
Altered mental status
Glasgow coma scale is ___ / 15
Clonus may be present
Hyperreflexia / hyporeflexia / areflexia
Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
Muscle rigidity
Proximal/distal muscle weakness unilaterally/bilaterally
____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
Unilateral/bilateral upper/lower extremity weakness
Unilateral/bilateral sensory loss in the upper/lower extremity
Positive straight leg raise test
Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
Positive/negative Trendelenburg sign
Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
Normal finger-to-nose test / Dysmetria
Absent/present dysdiadochokinesia (palm tapping test)

Extremities

Clubbing
Cyanosis
Pitting/non-pitting edema of the upper/lower extremities
Muscle atrophy
Fasciculations in the upper/lower extremity

References

Template:WH Template:WS

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [5]; Associate Editor(s)-in-Chief:

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

There are no diagnostic laboratory findings associated with [disease name].

OR

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
[Test] is usually normal among patients with [disease name].
Laboratory findings consistent with the diagnosis of [disease name] include:
- [Abnormal test 1]
- [Abnormal test 2]
- [Abnormal test 3]

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

References

Template:WH Template:WS

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [6]; Associate Editor(s)-in-Chief:

Overview

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Electrocardiogram

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include
- [Finding 1]
- [Finding 2]
- [Finding 3]

References

Template:WH Template:WS

[KopacovaTacheci2009-1] 1.0 ^1.1 ^1.2 ^1.3 Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.

[GiardielloTrimbath2006-2] Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.

[1]

[2]

Sandbox:Hamid

Overview

Historical Perspective

Classification

Pathophysiology

Pathogenesis

Pathology

Causes

Epidemiology and Demographics

Prevalence

Age

Gender

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Use if the above table can not be made

References

Overview

Diagnostic Study of Choice

Template statements

Gold standard/Study of choice:

The comparison table for diagnostic studies of choice for [disease name]

Diagnostic results

Sequence of Diagnostic Studies

Diagnostic Criteria

References

Overview

History and Symptoms

History

References

Overview

Physical Examination

Appearance of the Patient

Vital Signs

Skin

HEENT

Neck

Lungs

Heart

Abdomen

Back

Genitourinary

Neuromuscular

Extremities

References

Overview

Laboratory Findings

References

Overview

Electrocardiogram

References

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