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14 results found

Carney-Stratakis syndrome

Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma. Terminology It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex. Histor...

Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumour gene) and consists of: Wilms tumour male pseudohermaphroditism progressive glomerulonephritis

Haemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome, is a non-malignant disorder of immune regulation characterised by overproduction of cytokines and diminished immune surveillance. It may affect multiple organs and is one of the few entities which demonstrat...

Hand-foot syndrome (chemotherapy)

Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterised by a widespread erythema, oedema and ulceration of the hands and feet.  Causative drugs Many chemotherapeuti...

Hyperparathyroidism-jaw tumour syndrome

Hyperparathyroidism-jaw tumour syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumours, most notably, tumours in the mandible or maxilla 2. Epidemiology Approximately 200 cases have been reported in the ...

Lambert-Eaton myasthenic syndrome

Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune etiology. Epidemiology LEMS is the second most common neuromuscular junction disease after myasthenia gravis.  Two-thirds of LEMS present as a paraneoplastic syndrome sec...

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...

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...

Superior vena cava obstruction

Superior vena cava (SVC) obstruction can occur from extrinsic compression, intrinsic stenosis or thrombosis. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms that results from this obstruct...

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...

Syndrome of inappropriate antidiuretic hormone secretion

Syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) was described in patients with lung cancer who developed hyponatraemia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in which the sodium remains normal but total body fluid incre...

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-5...

WAGR syndrome

The WAGR syndrome stands for: Wilms tumours (greatly increased risk) aniridia genital anomalies mental retardation Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene. 

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