%0 Journal Article
%T Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature
%A Peter M Prodinger
%A Mario Sarbia
%A J£¿rg Ma£¿mann
%A Christian Straka
%A G¨¹nther Meyer
%A Ortrud K Steinlein
%J BMC Cancer
%D 2010
%I BioMed Central
%R 10.1186/1471-2407-10-360
%X We discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the Patched (PTCH) gene on chromosome 9q22. NBCCS patients often have a coarse facial appearance with macrocephaly, frontal bossing and prognathism. Falx calcification is frequently found in affected individuals and skeletal anomalies such as bifid ribs, wedge-shaped or fused vertebra and thumb deformities are common. Multiple keratocysts of the jaw can develop between childhood and young adulthood, and most patients get their first basal cell carcinoma (BCC) in their early 20s [1]. Although some additional tumor types such as medulloblastoma, cardiac and ovarian fibromas, and lipomas are known to have an increased frequency in NBCCS, intestinal tumors are not known to be part of the clinical phenotype [2]. In the following we describe the clinical, histopathological and genetic findings in a patient showing a combination of an unusual phenotype of NBCCS, a rare adenocarcinoma of the ileum and mesenchymal proliferation of the small bowel and probably also the stomach.The patient, a Caucasian male, had multiple BCCs surgically removed from the his face, requiring extensive facial skin graft repair, at the age of 49. At the age of 52 years he presented with weight loss and sub-ileus. A CT-scan indicated a stenosing process located proximal to the ileocolic valve. Consecutively explorative laparotomy was performed and showed an obstructing tumor mass at the terminal ileum that required ileocecal resection extended to the regional lymph nodes of the mesentery. Due to unusual histopathological findings esophagogastroduodenoscopy and colonoscopy were conducted after the operation and showed polyploid structures in the stomach (Figure 1) and the neoterminal ileum. Endoscopic mucosal biopsies were ta
%U http://www.biomedcentral.com/1471-2407/10/360