Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights

Figure 1 Timeline of hereditary polyposis syndromes and identification of causative gene. APC: Adenomatous polyposis coli; AXIN2: Axis inhibition protein 2; BMPR1A: Type IA bone morphogenetic protein receptor; CMMRD: Constitutional mismatch repair deficiency; POLD1: Polymerase delta 1; POLE: Polymerase-epsilon; MLH: MutL homolog; MUTYH: MutY homologue; RNF43: Ring finger 43.

Figure 2 Polyps and extraintestinal manifestations in patients with hereditary polyposis syndromes. A: Severe colonic adenomatosis in a patient with familial adenomatous polyposis; B: Colonic polyposis in patient with Peutz-Jegher syndrome; C: Severe gastric polyposis in patient with SMAD4-related juvenile polyposis syndrome; D: Patient with Cowden syndrome and macrocephaly.