Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a pro...

1.1 Clinical features and tumor spectrum Lynch syndrome (LS) (MIM No. 120435-6), previously known as hereditary nonpolyposis colorectal cancer (HNPCC) (Boland, 2005), is an autosomal dominant disorder caused by germline mutation in one of the DNA mismatch repair (MMR) genes. LS is among the most prevalent cancer syndromes in man and is estimated to account for 1-6% of all colorectal cancers (Ly...

A 20-year-old woman presented for a routine eye examination. Her best-corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. Fundus examination revealed in both eyes the presence of multiple egg-shaped hyperpigmented retinal lesions (at least 4), sur-rounded by a depigmented halo(figure 1, black arrows). The appearance of these lesions was suggestive of congenital hypertr...

Familial adenomatous polyposis (FAP) is a hereditary condition transmitted in an autosomal dominant fashion, which is characterized by the appearance of numerous adenomatous polyps in the colon. This condition results from mutation of the APC gene and accounts for 1% of cases of colorectal cancer. FAP is frequently associated with extracolonic manifestations: desmoid tumors, osteomas, pigmented...

Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other s...

The current report is the case of a 30-year-old male patient who presented with symptomatology suggestive of appendicitis. However, careful history-taking and laboratory tests led to the diagnosis of Clostridium difficile colitis, resulting in successful nonsurgical management of this patient. Although both appendicitis and C. difficile colitis are common conditions, they are rarely diagnosed c...