Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity, and mutilating skin lesions. We discuss a female infantile case who was admitted for jaundice; bullous lesions appeared on her trunk during phototherapy in the neonatal period. The skin biopsy findings were consistent with epidermolysis bullosa. Due to persistent hepatosplenomegaly and cholestasis, metabolic tests and liver biopsy were performed. During the follow-up, hemolytic anemia and red urine were detected. The levels of porphyrin metabolites were determined at high concentrations in plasma, stool and urine analysis, which were suggestive of congenital erythropoietic porphyria.

Appendicular metastasis from pancreatic adenocarcinoma.

We present a 78-yr-old man with appendicular metastases from pancreatic adenocarcinoma. Barium enema X-ray showed incomplete filling of a distended appendix in a patient with abdominal discomfort. Colonoscopic evaluation revealed firm nodules in appendicular orifice. Histopathological examination of the nodule in the appendix revealed a metastatic adenocarcinoma. Abdominal computed tomography showed a low-density mass in the body of the pancreas. Endoscopic ultrasonography disclosed a hypoechoic mass in the body of the pancreas. Appendicular metastasis is extremely rare. To our knowledge, this is the second case of adenocarcinoma of the pancreas metastatic to the appendix in English language literature. A brief review of relevant literature is presented.