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.
Prodinger
Peter M
PM
Institut für Humangenetik, University of Munich, University Hospital, Goethestr, 29, 80336 Munich, Germany.
Sarbia
Mario
M
Massmann
Jörg
J
Straka
Christian
C
Meyer
Günther
G
Steinlein
Ortrud K
OK
D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D049109:Cell Proliferation; D041981:Gastrointestinal Tract / Q000378:metabolism / Q000473:pathology*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D007421:Intestine, Small / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008648:Mesoderm / Q000378:metabolism / Q000473:pathology*; D008875:Middle Aged; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011379:Prognosis; D011956:Receptors, Cell Surface / Q000235:genetics; D012196:Review Literature as Topic
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface