Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature

Background and Case Presentation: A patient with nevoid basal cell
carcinoma syndrome (Gorlin syndrome) presented with two unusual
clinical features, i.e. adenocarcinoma of the small bowel and
extensive mesenchymal proliferation of the lower gastrointestinal
tract. Conclusions: We discuss the possibility that these two
features are pathogenetically linked to the formerly undescribed
patient's PTCH germ line mutation.