BACKGROUND Transthyretin amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin monomers. Two main forms exist: hereditary and wild-type transthyretin amyloidosis, the former associated with transthyretin gene mutations. There are several disease manifestations; however, gastrointestinal complications are common in the hereditary form. The aim of this st...

Extrapulmonary manifestations of Mycoplasma pneumoniae pneumonia are uncommon and include hematologic, gastrointestinal, musculoskeletal, dermatologic, and neurologic complications. We report a case of serologically-confirmed M. pneumoniae infection complicated by severe neutropenia, thrombocytopenia, and hepatitis. The presence of antiplatelet and antineutrophil antibodies suggested that these...

Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with ...

Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Firm or hard hepatomegaly is present nearly in all patients, often with a prominent left lobe, and this is usually one of the presenting signs. The haematological manifestations...

H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hy...

R ecurrent oral and genital aphthous ulcerations are the hallmarks of Behçet’s disease. Up to now the various clinical manifestations in Behçet’s disease have been treated with limited success. Recently, clinical observations have reported dramatic responses on clinical signs and symptoms in patients treated with tumour necrosis factor a (TNFa) blocking drugs, including severe mucocutaneous, ga...

Cases of non-African Burkitt lymphoma are rare, but the clinical manifestations of this and the African type are similar. The authors believe that this patient is the first described presenting with dysphagia without intrinsic gastrointestinal disease.

Descriptions of the numerous manifestations of human immunodeficiency virus (HIV) infection affecting almost every organ system have abounded in recent publications. Multiple radiological, clinical and postmortem reports have recorded the cerebral, pulmonary, cardiac, renal, rheumatological and gastrointestinal pathologies in HIV-infected individuals, ranging from the bizarre to the mundane. La...

Clinical manifestations of primary amyloidosis can be subtle, particularly when the gastrointestinal tract is involved. We present two cases that illustrate the diversity of such involvement and the subsequent problems with diagnosis. Gastrointestinal effects of primary systemic amyloidosis are reviewed and clinical pointers towards diagnosis are discussed. In particular these cases illustrate ...