Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Purpose: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific.

Thrombotic thrombocytopenic purpura in advanced prostate cancer: case report and published work review.

Thrombotic thrombocytopenic purpura (TTP) is a generalized disorder of the microcirculation characterized by microangiopathic hemolytic anemia (MHA), thrombocytopenic purpura and systemic microvascular thrombi. TTP has been previously described in two patients with prostate cancer (PC). We report a third case of TTP in a 61-year-old man with hormone-refractory bone metastatic PC.