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 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.
Antiphospholipid syndrome is characterised by veno...
Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinaemia where there is malignant lymphocyte infiltration into the central nervous system (CNS).
The exact incidence is unknown, however, in one study of patients with Waldenström macroglobu...
Diamond-Blackfan anaemia (DBA) (previously known as congenital hypoplastic anaemia) is the primary congenital form of pure red cell aplasia. It is a rare sporadic genetic form of anaemia that typically presents in the first few years of life, and usually only affects cells of the erythroid linea...
Disseminated intravascular coagulation (DIC), also known as consumption coagulopathy or defibrination syndrome, refers to a systemic phenomenon of overactivation of coagulation and fibrinolysis resulting in widespread clots forming inside blood vessels.
Patients present w...
Episodic angioedema with eosinophilia (EAE), also known as Gleich syndrome, is a rare condition presenting as a self-limiting cyclic urticaria, fever, angioedema, weight gain and marked eosinophilia, with 3-4 weekly episodes 1.
Episodic angioedema with eosinophilia is rare, only a...
Felty syndrome is a rare haematological syndrome in rheumatoid arthritis.
It is thought to occur in ~ 1% of patients with rheumatoid arthritis 2.
Felty syndrome comprises of the triad of:
typically with severe articular and extra-art...
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, and other sequelae.
Clinical presentation varies, is related to hypoxia, and characteristically includes the ...
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...
Haemophagocytic lymphohistiocytosis (HLH) is a non-malignant but often-fatal disorder of immune dysregulation affecting multiple organs. It is also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder.
It typically affects infants and y...
Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterised by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and ...
Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumour suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1.
Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterised by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein.
There are four core NAS:
McLeod syndrome (MLS)
Huntington disease-like ...
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.
POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia:
hepatomegaly, splenomegaly or lymphadenopathy
Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes.
The disease predominantly occurs in young adults with a mean age at pre...
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features.
The estimated incidence is 1 in 100,000-125,000 live births 5.
Sézary syndrome (SS) is a type of primary cutaneous T-cell lymphoma.
It is clinically characterised by an extensive erythematous rash covering most of the body as well as the presence of malignant lymphocytes in the blood.
History and etymology
It is named after Albert...
Acute chest syndrome (ACS) in sickle cell disease is a leading thoracic complication - as well as leading cause of mortality - in those affected by sickle cell disease. The diagnosis is made on the combination of new pulmonary opacity on chest x-ray with at least one new clinical symptom or sign...
Sweet syndrome (acute febrile neutrophilic dermatosis) is characterised by a constellation of clinical symptoms, physical features, and pathologic findings which include:
tender erythematous skin lesions (papules, nodules and plaques)
a diffuse infiltrate consisting predom...
Trousseau syndrome (not to be confused with Trousseau sign) represents the association between migratory thrombophlebitis and malignancy, particularly mucin-producing tumours; hence one of its other names: cancer-associated thromboembolism 1.
History and etymology
Armand Trousseau (1801-1867)...