Familial adenomatous polyposis differential diagnosis: Difference between revisions

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Revision as of 15:55, 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 polyp Macrocephaly Breast fibrosis
Carney Syndrome	-	-	-	-	Facial+ Mucosal+	-	PRKAR1A		Thyroid Sertoli Cell	Myxoma of skin Myxoma of heart
Hereditary Non-Polyposis Colon Cancer	-	+	+	+/-	-	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrium Stomach Kidneys Ureter Ovaries	Sebaceous adenoma

References

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-| style="background: #F5F5F5; padding: 5px;" |[[APC (gene)|''APC'' gene]]
+| style="background: #F5F5F5; padding: 5px;" |
-[[MUTYH|''MUTYH'' gene]]
+* [[APC (gene)|''APC'' gene]]
+* [[MUTYH|''MUTYH'' gene]]
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+++
 | style="background: #F5F5F5; padding: 5px;" |
@@ Line 51: / Line 52: @@
 |-
 |[[Peutz-Jeghers syndrome]]
+| +
+| +
+| +
+| +
 |
-|
+| +
-|
-|
-|
-|
 |
 |
@@ Line 69: / Line 70: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | -
-| style="background: #F5F5F5; padding: 5px;" |SMAD4
+| style="background: #F5F5F5; padding: 5px;" |
+* SMAD4
-[[BMPR1A]]
+* [[BMPR1A]]
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
@@ Line 90: / Line 91: @@
 [[Facial]]+
 | style="background: #F5F5F5; padding: 5px;" | -
-| style="background: #F5F5F5; padding: 5px;" |[[PTEN (gene)|PTEN]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[PTEN (gene)|PTEN]]
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
@@ Line 98: / Line 100: @@
 * [[Thyroid]]
 * [[Endometrium]]
-| style="background: #F5F5F5; padding: 5px;" |[[Trichilemmoma]], [[skin]] [[hamartoma]], [[Hyperplasia|hyperplastic]] [[Polyp|polyps]], [[macrocephaly]], [[breast]] [[fibrosis]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[Trichilemmoma]]
+* Skin hamartoma
+* Hyperplastic polyp
+* Macrocephaly
+* Breast fibrosis
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']]
@@ Line 109: / Line 116: @@
 [[Mucous membrane|Mucosal]]+
 | style="background: #F5F5F5; padding: 5px;" | -
-| style="background: #F5F5F5; padding: 5px;" |[[PRKAR1A]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[PRKAR1A]]
 | style="background: #F5F5F5; padding: 5px;" |
 | style="background: #F5F5F5; padding: 5px;" |
 * [[Thyroid]]
-* Sertoli Cell
+* [[Sertoli-Leydig cell tumor|Sertoli Cell]]
-| style="background: #F5F5F5; padding: 5px;" |[[Myxoma|Myxomas]] of [[skin]] and [[heart]]
+| style="background: #F5F5F5; padding: 5px;" |
+* Myxoma of [[skin]]
+* Myxoma of [[heart]]
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non-Polyposis Colon Cancer''']]
@@ Line 123: / Line 133: @@
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" |[[MLH1]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[MLH1]]
-[[MSH2]]
+* [[MSH2]]
+* [[MSH3]]
-[[MSH3]]
+* [[MSH6]]
+* [[PMS1]]
-[[MSH6]]
+* [[PMS2]]
-[[PMS1]]
-[[PMS2]]
 | style="background: #F5F5F5; padding: 5px;" |[[Adenoma]]+
-| style="background: #F5F5F5; padding: 5px;" |[[Endometrium|Endometrial]], [[Stomach|gastric]], [[renal pelvis]], [[ureter]], and [[Ovary|ovarian]]
+| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |[[Sebaceous gland|Sebaceous]] [[adenoma]]
+* [[Endometrium]]
+* [[Stomach]]
+* [[Kidney|Kidneys]]
+* [[Ureter]]
+* [[Ovary|Ovaries]]
+| style="background: #F5F5F5; padding: 5px;" |
+* [[Sebaceous gland|Sebaceous]] [[adenoma]]
 |}

Familial adenomatous polyposis differential diagnosis: Difference between revisions

Revision as of 15:55, 31 January 2018

Overview

Differentiating familial adenomatous polyposis from other Diseases

References

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