Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.

Exclusively gastric form of juvenile polyposis associated with germline SMAD4 mutation is a rare clinical entity and is usually difficult to diagnose in the absence of colorectal lesions. We describe the phenotype of two unrelated cases of exclusive or predominant gastric expression of juvenile polyposis. Endoscopically, we found an unusual hypertrophic and polypoid gastropathy with abundant mucus adhering to the mucosal surface. Initially diagnosed as hyperplastic polyps, examination of gastric macrobiopsy specimens and identification of SMAD4 gene mutation in both cases confirmed the diagnosis. Close upper GI surveillance was proposed in case 1 and prophylactic total gastrectomy in the second one. Juvenile polyposis limited to the stomach is a rare condition that is linked to SMAD4 mutations. Such a diagnosis should be considered whenever a mixed, hypertrophic and polypoid gastropathy is encountered.

C4d: a marker for hepatic transplant rejection.

BACKGROUND: Acute rejection is still a common complication of hepatic transplantation. The diagnosis, based on the histological examination of the graft, may be difficult to confirm in the setting of combined hepatitis C virus infection. The presence of C4d in the portal capillaries could facilitate differentiation between acute rejection and relapsed hepatitis C. The deposit of C4d provides evidence of activation of humoral immunity. To attempt to confirm this hypothesis, we searched for the presence of C4d in posttransplant hepatic biopsies. METHODS: Thirty-six biopsies from 34 patients were analyzed retrospectively. The samples had been requested for one of the following reasons: suspected rejection, relapsed hepatitis C infection, or systematic check-up 1 year after the transplant. RESULTS: C4d expression was common in biopsies classified as acute rejection (33%) and chronic rejection (100%). C4d was never detected in the event of recurrent hepatitis C infection without rejection. CONCLUSION: These results, which are comparable to recently published data, give credence to the theory that C4d could be used as a marker for rejection following hepatic transplantation.

Improved liver function and decreased hepatitis C viral load after tacrolimus was replaced by cyclosporine.

Potential antiviral properties of cyclosporine against hepatitis C virus have been highlighted in several publications. Therefore, we investigated the effect of a switch from tacrolimus to cyclosporine in a liver transplant recipient with recurrent hepatitis C who did not respond to antiviral therapy. The patient received a liver transplant for hepatitis C cirrhosis. Initial immunosuppressive treatment was based on tacrolimus. Because of viral activity, a combined therapy was initiated 20 months later including interferon and ribavirine. Then, due to a lack of virological and biochemical response, tacrolimus was replaced by cyclosporine (Neoral), while maintaining the same antiviral therapy. Decreases in the viral load and transaminases levels were observed.

Spleen localization of light chain deposition disease associated with sea blue histiocytosis, revealed by spontaneous rupture.

Splenic involvement by a light chain deposition disease (LCDD) associated with sea-blue histiocytosis occurred in a 55-year-old man presenting with LCDD of the kidney without myeloma. Lambda light chain deposits were demonstrated by immunohistochemistry in vessel walls and along the ring fibres of the red pulp sinuses. Accumulation of sea blue histiocytes in the cords was also present. Stiffness of the walls of the red pulp sinuses resulting from light chain deposits may have induced accumulation and destruction of circulating blood cells. Lipid catabolism with production of ceroids may have resulted in lipidic histiocytosis with a sea blue histiocyte pattern.