CONTEXT Polycystic disease is a rare disorder, which most commonly manifests in the kidney and liver. Recently an increased risk for pancreatic malignancies in subsets of patients with polycystic disease has been reported. CASE REPORT We report a patient with polycystic liver and kidney disease who successfully underwent a Whipple's procedure for pancreatic adenocarcinoma. CONCLUSION Althou...

Background Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder defined by low plasma levels of alpha-1 antitrypsin (AAT). It is linked primarily with the development of lung, liver and skin disease. The most common abnormal variant of AAT is the ‘Z’ variant. It is the AATD type most associated with the development of liver disease. The aim of this project is to determine the prevalen...

Granuloma annulare (GA) is a benign granulomatous skin disorder of unknown etiology. GA is rarely associated with liver diseases. We report a unique case of chronic hepatitis with liver granulomas in a patient with GA. Despite an extensive workup, no clear etiology for the hepatitis was found. Based on the possible immune pathophysiology of GA and the presence of liver granulomas, the patient w...

BACKGROUND Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes. LD is characterized by the presence of strongly PAS-positive intracellular inclusions (Lafora bodies) in several tissues. Glycogen storage disease type IV (GSD-IV; Andersen disease) is an autosomal recessive disorder characterized by ci...

Alcaptonuria is a rare, hereditary, metabolic disorder characterized by a defect in the oxidation of tyrosine (l-3). In this condition homogentisic acid, an intermediary product of tyrosine degradation in mammalian liver, is excreted in the urine. This disorder has been attributed to an abnormality of the enzyme system, homogentisic acid oxidase, but the exact nature of the abnormality has not ...

INTRODUCTION — Alpha-1 antitrypsin (AAT) deficiency is a clinically underrecognized inherited disorder affecting the lung, liver, and rarely skin. The characteristics of the pulmonary manifestations of this disorder will be reviewed here [1-4]. Extrapulmonary disease and therapy are discussed separately. (See "Extrapulmonary manifestations of alpha-1 antitrypsin deficiency" and "Treatment of al...

The development of a purpura-fulminans-like disorder which is a human equivalent of a local Shwartzman reaction in a woman with active chronic hepatitis is described. The cyclical appearance of blue-black, well circumscribed, haemorrhagic, acutely painful lesions in the buttocks, over the lateral aspects of the thighs, and on the arms suggested the diagnosis. Evidence of increased intravascular...

INTRODUCTION Because the normal ovary is assumed to be devoid of lymphoid tissue, it is unusual for it to be an initial manifestation of malignant lymphoma. This case is the first report, to our knowledge, of post-transplant lymphoproliferative disorder involving the ovary as an initial manifestation. CASE PRESENTATION Twenty-nine weeks after a living renal transplantation, a 38-year-old Japa...

We performed an epidemiological investigation of subjects with premenstrual dysphoric disorder (PMDD) to identify the clinical distribution of the major syndromes and symptoms. The pathogenesis of PMDD mainly involves the dysfunction of liver conveyance and dispersion. Excessive liver conveyance and dispersion are associated with liver-qi invasion syndrome, while insufficient liver conveyance a...

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal, predominantly inherited disease characterized by diffuse telangiectases involving the skin, mucous membranes, lung, brain, gastrointestinal tract and liver. Peliosis hepatis is a rare, benign disorder causing sinusoidal dilatation and the presence of multiple blood-filled lacunar spaces within the liver. We report a case of an HHT pa...