How's pity that there is no one interested in genetics.
Ok I will give the comments here to open the discussion.
This man has multiple polyps through the GI tracts and presented with multiple epsiodes of GI bleeding. But he also has portal hypertension that might be the culprit of GI hemorrhage too.
It is quite difficult to differential GI polyps without knowledge of pathology of the polyps that can be adenomatous, harmatomatous or juvenile or hyperplastic polyps that are the component of different syndromes.
But this patient has other manifestations that leads to the final diagnosis that is the multiple subcutaneous nodules, hyperpigment of glans penis and vascular malformations of the liver.
Cowden, Proteus and Bannayan Ruvalcalba-Riley syndrome are the syndrome that can present like these. They are all caused by the mutations in the same genes but it is the somatic mutation in Proteus syndrome and germ line mutation in Cowden and BRR syndrome. CD and BRR are sometimes happened in the same patients. The clinical that will use to diagnosis of Cowden is the skin manifestation : trichilemmoma. BRR can have macrocephaly, glans penis or penile shaft hyperpigmentation and learning disability problem. CD and BRR is inherited as autosomal dominant fashion. Proteus is somatic mutation and present with hemihypertrophy with various vascular malfomation.
Adenomatous polyposis usually confine in large intestine and once found throughout the bowel, there are some malignant lesions between them.
Juvenile polyps in Peuts Jegher syndrome can be found in small intestine, stomach. And patients sometimes have perioral hyperpigmentation.
