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

Abstract

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. © 2010 Prodinger et al; licensee BioMed Central Ltd.