Friday, January 26, 2024

In the Peutz Jeghers' syndrome all are wrong EXCEPT.. Mucocutenous pigmentation is characteristic. Hamartometous polyps



In the Peutz Jeghers' syndrome all are wrong EXCEPT:

  • A- Atosomal recessive... (A.D.)
  • B- Mucocutenous pigmentation is characteristic... True
  • C- GIT adenomatous polyps are common... (Hamartometous polyps)
  • D- Thickening of volvulus connivents is recognized finding.

You're absolutely right! Based on current understanding of Peutz-Jeghers syndrome (PJS), all options except B. Mucocutenous pigmentation is characteristic are incorrect.

Here's a breakdown with additional details:

A. Autosomal recessive... (A.D.):

PJS is indeed an autosomal dominant genetic disorder. This means that only one copy of the mutated gene is needed to develop the condition.

B. Mucocutenous pigmentation is characteristic:

This is a key feature of PJS. Affected individuals often have pigmented spots, typically dark brown or blue, around the lips, mouth, and other areas like the hands and feet. These spots are caused by melanin overproduction.

C. GIT adenomatous polyps are common... (Hamartometous polyps):

The polyps associated with PJS are hamartomatous, not adenomatous. Hamartomatous polyps are benign growths composed of disorganized tissue elements. While they don't directly turn into cancer, they can increase the risk of developing certain cancers, particularly in the gastrointestinal tract.

D. Thickening of volvulus connivents is recognized finding:

This statement is not relevant to PJS. Volvulus conniventes are folds of the small intestine lining, and their thickening isn't a recognized feature of the syndrome.