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11 results found

All-trans retinoic acid syndrome

All-trans retinoic acid (ATRA) syndrome (more recently known as differentiation syndrome (DS)8) is a condition that can occur with patients with acute promyelocytic leukaemia who are on therapeutic all-trans-retinoic acid (ATRA). All-trans-retinoic acid (ATRA) is a normal constituent of plasma....

Antiphospholipid syndrome

Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischaemic events occurring in patients who have circulating antiphospholipid antibodies. Pathology Patients have circulating antiphospholipid antibodies cross-re...


A haemoglobinopathy is a genetic disorder which alters the structure of haemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues. Terminology Types of haemoglobinopathies include the following: sickle cell disease (Hb S) sickle cell trait (HB AS) sickle cell...

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syn...

Paraneoplastic syndromes

Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems. Epidemio...

POEMS syndrome

POEMS syndrome is an acronym for a rare multisystem disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly E: endocrinopathy M: monoclonal gammopathy S: skin changes (including hyperpigmentation and sk...

Rosai-Dorfman disease

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Epidemiology The disease predominantly occurs in young adults with a mean age at presentation of 21 years. There may be...

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by mental retardation, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical pres...

Sezary syndrome

Sézary syndrome (SS) is a type of cutaneous T-cell lymphoma. It is sometimes considered an advanced and leukaemic form of cutaneous T-cell lymphoma (CTCL). Clinical presentation It is clinically characterised by an extensive erythematous rash covering most of the body as well as the presence o...

Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterised by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules, and plaques) a diffuse infiltrate consisting predo...

Trousseau syndrome

Trousseau syndrome is referred to by a number of names, such as migratory thrombophlebitis and cancer-associated thromboembolism, but is essentially the association of venous thrombosis provoked by a yet to be diagnosed malignancy.

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