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Peutz-Jeghers Syndrome

 Syn. Peutz Jeghers Syndrome , PJS

Signs & Symptoms

 Pigmented mucocutaneous macules on lips #criteria
Note: note to Most commonly on the lips & perioral area(94%),palms (74%),buccal mucosa(66%),soles(62%),due to Pigment-laden macrophages in the dermis
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ History & exam]
Pigmented mucocutaneous macules #criteria
Note: note to Most commonly on the lips & perioral area(94%),palms (74%),buccal mucosa(66%),soles(62%),due to Pigment-laden macrophages in the dermis
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ History & exam]
Pigmented mucocutaneous macules on perioral area #criteria
Note: note to Most commonly on the lips & perioral area(94%),palms (74%),buccal mucosa(66%),soles(62%),due to Pigment-laden macrophages in the dermis
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ History & exam]
Pigmented mucocutaneous macules on palms #criteria
Note: note to Most commonly on the lips & perioral area(94%),palms (74%),buccal mucosa(66%),soles(62%),due to Pigment-laden macrophages in the dermis
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ History & exam]

Physical Examination

 Hamartomatous polyps in rectum #criteria
Note: note to Most commonly in the small bowel(>75%), colon(50-64%), stomach(15-30) and rectum(28%),Germline mutations in STK11 gene
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ Tests]
Tachycardia
Note: due to Severe anemia
Ref: Uptodate [ -----] Epocrates [ Definition]
Abnormal heart sounds
Note: due to Severe anemia
Ref: Epocrates [ History & exam]

Lab / Serology

Imagin Study

 Multiple gastrointestinal hamartomatous polyps #criteria
Note: note to Most commonly in the small bowel(>75%), colon(50-64%), stomach(15-30) and rectum(28%),Germline mutations in STK11 gene
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ Tests]
Hamartomatous polyps in small bowel #criteria
Note: note to Most commonly in the small bowel(>75%), colon(50-64%), stomach(15-30) and rectum(28%),Germline mutations in STK11 gene
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ Tests]
Hamartomatous polyps in colon #criteria
Note: note to Most commonly in the small bowel(>75%), colon(50-64%), stomach(15-30) and rectum(28%),Germline mutations in STK11 gene
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ Tests]

Complication

 Small bowel obstruction
Note: note to In 95% of cases the small bowel is affected,due to Intussuseption, due to occlusion of the gastrointestinal lumen by polyp
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ History & exam]
Gastrointestinal cancers
Note: Colorectal(39%),stomach(29%),small bowel(13%),pancreas(11-36%)
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ Definition]
Obstruction
Note: note to In 95% of cases the small bowel is affected,due to Intussuseption, due to occlusion of the gastrointestinal lumen by polyp
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management] Epocrates [ History & exam]

Risk Factors

Cause

 Family history of PJS #criteria
Note: due to Germline mutations in STK11
Ref: Uptodate [ Peutz-jeghers syndrome :clinical manifestations,diagnosis and management]

Other