Familial adenomatous polyposis differential diagnosis: Difference between revisions

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Revision as of 15:50, 31 January 2018

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps, such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome.

Differentiating familial adenomatous polyposis from other Diseases

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps including:
- Peutz-Jeghers syndrome
- Familial juvenile polyps or hyperplastic polyposis
- Hereditary mixed polyposis syndromes
- Lynch syndrome

Diseases	History and Symptoms			Physical Examination			Laboratory Findings			Other Findings
Diseases	Abdominal Pain	Rectal Bleeding	Fatigue	Abdominal Tenderness	Hyperpigmentation	Anemia	Gene(s)	Gastrointestinal Tumors	Cancers	Other Findings
Familial Adenomatous Polyposis	+	+	+	+/-	-	+	APC gene MUTYH gene	Adenoma+++	Colon Brain Thyroid	Desmoid tumor Osteoma
Peutz-Jeghers syndrome
Juvenile Polyposis Syndrome	+		+	-	-	-	SMAD4 BMPR1A	Adenoma+ Hamartoma+++	Colon
Cowden Syndrome	-	-	-	-	Axillary+ Inguinal+ Facial+	-	PTEN	Adenoma+ Hamartoma+++	Breast Thyroid Endometrium	Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis
Carney Syndrome	-	-	-	-	Facial+ Mucosal+	-	PRKAR1A		Thyroid Sertoli Cell	Myxomas of skin and heart
Hereditary Non-Polyposis Colon Cancer	-	+	+	+/-	-	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrial, gastric, renal pelvis, ureter, and ovarian	Sebaceous adenoma

References

Template:WH Template:WS

@@ Line 16: / Line 16: @@
 |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
 ! rowspan="2" |Diseases
-! colspan="4" |History and Symptoms
+! colspan="3" |History and Symptoms
 ! colspan="3" |Physical Examination
-! colspan="4" |Laboratory Findings
+! colspan="3" |Laboratory Findings
 ! rowspan="2" |Other Findings
 |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
 !Abdominal Pain
 !Rectal Bleeding
-!Hyperpigmentation
 !Fatigue
 !Abdominal Tenderness
@@ Line 29: / Line 28: @@
 !Anemia
 !Gene(s)
-!Sertoli Cell Tumors
 !Gastrointestinal Tumors
 !Cancers
@@ Line 36: / Line 34: @@
 | style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" | +/-
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" |[[APC]]
+| style="background: #F5F5F5; padding: 5px;" |[[APC (gene)|''APC'' gene]]
-| style="background: #F5F5F5; padding: 5px;" | -
+[[MUTYH|''MUTYH'' gene]]
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+++
-| style="background: #F5F5F5; padding: 5px;" |[[Colon (anatomy)|Colon]], [[brain]]
+| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |[[Desmoid tumor|Desmoid tumors]], [[Osteoma|osteomas]]
+* [[Colon (anatomy)|Colon]]
+* [[Brain]]
+* [[Thyroid]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[Desmoid tumor]]
+* [[Osteoma]]
 |-
 |[[Peutz-Jeghers syndrome]]
-|
-|
 |
 |
@@ Line 64: / Line 65: @@
 | style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" | -
@@ Line 72: / Line 72: @@
 [[BMPR1A]]
-| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
 [[Hamartoma]]+++
-| style="background: #F5F5F5; padding: 5px;" |[[Colon (anatomy)|Colon]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[Colon (anatomy)|Colon]]
 | style="background: #F5F5F5; padding: 5px;" |
 |-
@@ Line 82: / Line 82: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | -
-| style="background: #F5F5F5; padding: 5px;" |[[Axillary]]+
-[[Inguinal region|Inguinal]]+
-[[Facial]]+
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | -
@@ Line 96: / Line 91: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |[[PTEN (gene)|PTEN]]
-| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
 [[Hamartoma]]+++
-| style="background: #F5F5F5; padding: 5px;" |[[Breast]], [[Thyroid]], [[Endometrium]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[Breast]]
+* [[Thyroid]]
+* [[Endometrium]]
 | style="background: #F5F5F5; padding: 5px;" |[[Trichilemmoma]], [[skin]] [[hamartoma]], [[Hyperplasia|hyperplastic]] [[Polyp|polyps]], [[macrocephaly]], [[breast]] [[fibrosis]]
 |-
@@ Line 106: / Line 103: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | -
-| style="background: #F5F5F5; padding: 5px;" |[[Facial]]+
-[[Mucous membrane|Mucosal]]+
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | -
@@ Line 116: / Line 110: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |[[PRKAR1A]]
-| style="background: #F5F5F5; padding: 5px;" | ++
 | style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |[[Thyroid]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[Thyroid]]
+* Sertoli Cell
 | style="background: #F5F5F5; padding: 5px;" |[[Myxoma|Myxomas]] of [[skin]] and [[heart]]
 |-
@@ Line 124: / Line 119: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" | +/-
@@ Line 140: / Line 134: @@
 [[PMS2]]
-| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
 | style="background: #F5F5F5; padding: 5px;" |[[Endometrium|Endometrial]], [[Stomach|gastric]], [[renal pelvis]], [[ureter]], and [[Ovary|ovarian]]

Familial adenomatous polyposis differential diagnosis: Difference between revisions

Revision as of 15:50, 31 January 2018

Overview

Differentiating familial adenomatous polyposis from other Diseases

References

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