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 Gardner Syndrome  



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Author12 Posts
  #1

A 34 y.o caucasian man presents complaining of blood in his stool for the last 2 weeks. He is is concerned because his father died at a young age of colon cancer. Physical examination reveals multiple epidermal inclusion cysts and a fecal occult blood test is positive. Colonoscopy reveals innumerable colonic polyps. A biopsy of one friable polyp confirms the diagnosis of adenocarcinoma of the colon. Genetic studies reveal a mutation in the APC gene on chromosome 5 and a diagnosis of GARDNER SYNDROME is suspected. Which of the following clinical findings would help confirm this diagnosis?

a) Cancer most commonly occurs in the proximal colon

b) Medulloblastoma

c) Oral papillomas and palmar pits

d) Congenital hypertrophy of the retinal pigment epithelium

e) Acral and periorificial macules.




  #2

c.
In Gardner syndrome, colon cancer is associated with multiple soft tissue tumors.


  #3

b


  #4

friends, the answer is d
i.e CHRPE
It is one of the most common initial marker....


-osteomas are required to make a diagnosis and mandible is the most common site.


  #5

The answer is d, as high yield said, one of their characteristic involvement.
(a) is incorrect coz most of the polyps in FAP family are in distal(for this reason their screening is done through sigmoidoscopy not colonoscopy).
b)is incorrect coz it's related to Turcot syndrome.
I don' t know much about c&e.
but important oral involvments in Gardner is mandible osteoma and extra teeth and important skin involvements epidermal cyst and sebaceous cyst and soft tissue tumors..
Thanks for the q jean robert.


  #6

gud question jean. tq.


  #7

actually a vry good q........


  #8

I agree, time for revision.


  #9

good question jeannod


  #10

I go with D


  #11

Could someone please explain how congenital hypertrophy of retinal pigment epithelium signifies for Osteoma?
Thanks in advance.


  #12

HIGHYEILD wrote:
friends, the answer is d
i.e CHRPE
It is one of the most common initial marker....


-osteomas are required to make a diagnosis and mandible is the most common site.



nodnod Good job, doc. Correct Answer is D

This patient has Gardner Syndrome, an A.D. condition caused by mutations in APC gene on Chromosome 5. Those patients typically have:

1.- Multiple epidermal inclusion ("sebaceous") cysts

2.- Osteomas

3.- Congenital hypertrophy of the retinal pigment epithelium

4.-Supernumerary teeth

5.- Multiple adenomatous polyps of the colon ( may undergo malignant transformation in the distal colon by the fourth to fifth decade of life.

Oral papillomas and palmar pits occur together with hamartous polyps og the GI tract with little risk for malignant transformation in COWDEN SYNDROME , an AD condition resulting from mutation in the PTEN gene on chromosome 10.





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