Disease Information for Peutz-Jegher's intestinal polyposis

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Clinical Manifestations
Signs & Symptoms
Adolescent
Breast Swelling Bilateral
Brown skin discoloration
Increased pigmentation/tanning/hyperpigmented
Pigment/melanin spots palms/toes/fingers
Abdominal Pain
Abdominal Pain Crampy
Active Bowel Sounds
Borborygmi/Bowel sound increased
Bowel sounds high pitched
Colicky Abdominal Pain
Glove stool exam guaiac positive
Hematochezia/Blood per Rectum
Hypereactive Bowel Sounds
Large bowel symptoms/signs
Rectal Blood/Bleeding
Rectal Blood/Bleeding in Children
Stool color/appearance abnormal
Buccal pigmentations
Lips/multiple blue/black spots
Oral mucosal pigmentations blue/black
Oral pigmentation lesions
Clinical Presentation & Variations
Presentation/Breast Carcinoma Young Woman
Presentation/GI Bleeding Recurrent No obvious source
Disease Progression
Course/Benign course/disorder
Course/Chronic disorder
Course/Chronic only
Course/Prognosis good/usually
Demographics & Risk Factors
Past History
Past History/GI Bleeding
Established Disease Population
Patient/Familial polyposis/coli
Population Group
Child
Population/Pediatrics population
Family History
Family history/GI Bleeding
Sex & Age Groups
Population/Adolescent
Population/Adult ('twenties')
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Fecal Globin Immunochemical Test positive
Abnormal Lab Findings - Increased
STOOL Occult blood
Diagnostic Test Results
Other Tests & Procedures
Colonoscopy/Abnormal
Colonoscopy/Multiple polyps
Colonoscopy/Polyp
Sigmoidoscopy Abnormal
Pathology
BX/Intestinal biopsy/ileum/ abnormal
X-RAY With contrast
BE/Multiple filling defects of colon (Xray)
SBS/Intestinal nodular filling defect (Xray)
SBS/Intussusception
SBS/Multiple intraluminal defects (Xray)
SBS/Small bowel mass (Xray)
Associated Diseases & Rule outs
Rule Outs
Gardner syndrome
Intestine, lymphoid hyperplasia
Associated Disease & Complications
Adenocarcinoma, colon
Adenoma, intestinal
Adenoma/Adenomatous polyp, colon
Adenomatous polyp/colon
Carcinoma, small bowel
Gastrointestinal bleeding
Gynecomastia
Hyperpigmentation
Intestinal polyp (small bowel)
Intestinal/bowel obstruction
Intestinal/Bowel Obstruction in Children
Intussusception
Peutz-Jegher's intestinal polyposis
Lower GI bleeding
Lower GI Bleeding Child
Small Intestine Bleeding
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Colon manifestation/disorder (ex)
CLASS/Intestinal disorder (ex)
CLASS/Intestinal/stomach/gut (category)
CLASS/Small intestine disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 19q13.1
Pathophysiology/Gene locus chromosome 19
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary Cancer
Pathophysiology/Ileum involvement/disorder
Pathophysiology/Intermittant partial bowel obstruction
Pathophysiology/Intraluminal Bowel Obstruction
Pathophysiology/Mechanical Bowel Obstruction
Pathophysiology/Peristalsis increased
Pathophysiology/Small bowel bleeding source/adults
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Benign tumor (ex).
PROCESS/Eponymic (category)
PROCESS/Hamartoma type neoplasm (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial/tumor syndrome (ex)
PROCESS/Neoplastic (category)
PROCESS/Phakomatosis/congenital (ex)
PROCESS/Polyps (ex)
PROCESS/GI Tumors (all)
PROCESS/GI tumors/children (ex)
PROCESS/Familial polyposis/colon (ex)
Synonyms
Synonym
Hamartomatous Intestinal Polyposes, Hamartomatous Intestinal Polyposis, Intestinal Polyposes Hamartomatous, INTESTINAL POLYPOSIS CUTANEOUS PIGMENTATION SYNDROME, Intestinal Polyposis Hamartomatous, Lentiginoses Perioral, Lentiginosis Perioral, Perioral Lentiginoses, Perioral Lentiginosis, Periorificial lentiginosis syndrome, Peutz Jegher Syndrome, Peutz Jeghers polyposis, Peutz Jeghers Syndrome, Peutz Jegher's Syndrome, Peutz Jeghers' syndrome, Peutz Jeghers syndrome (disorder), PJS, PJS Peutz Jehgers syndrome, Polyposes Hamartomatous Intestinal, Polyposis Hamartomatous Intestinal, POLYPOSIS INTESTINAL II, Polyps and Spots Syndrome, Polyps and Spots Syndromes, Syndrome Peutz Jeghers, Syndrome Peutz Jegher's, Syndrome Polyps and Spots, Syndromes Polyps and Spots, Synonym/Familial colon polyposis II, Synonym/Hutchinson-Weber-Peutz syndrome, Synonym/Intest. polyposis/cutaneous pigment syndr, Synonym/Intestinal polyposis type II, Synonym/Jegher's syndrome, Synonym/Lentigo-Polypose-Digestive syndrome, Synonym/Melanoplakia-Intestinal Polyposis, Synonym/Peutz syndrome, Synonym/Peutz-Jegher's syndrome, Synonym/PJS, Synonym/Polyposis, hamartomatous intestinal, Synonym/Polyps and Spots syndrome
Definition

Peutz Jeghers Syndrome; Hutchinson-Weber-Peutz Syndrome; Intestinal Polyposis II; Intestinal Polyposis-Cutaneous Pigmentation Syndrome; Jegher"s Syndrome; Lentigio-Polypose-Digestive Syndrome; Melanoplakia-Intestinal Polyposis; PJS; Peutz-Touraine Syndrome; Polyposis, Hamartomatous Intestinal; Polyps and Spots Syndrome;

Peutz-Jeghers Syndrome is a rare inherited disorder characterized by multiple benign nodular growths (hamartomas) on the mucous lining of the intestinal wall; Affected individuals also have dark skin discolorations, especially around the lips and mucous membranes of the mouth----------[nord 2005]-----------------------------------------------------

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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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