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16 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 leukemia 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 ischemic events occurring in patients who have circulating antiphospholipid antibodies. Clinical presentation Antiphospholipid syndrome is characterized by venou...

Bing-Neel syndrome

Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia where there is malignant lymphocyte infiltration into the central nervous system (CNS). Epidemiology The exact incidence is unknown, however, in one study of patients with Waldenström macroglobul...


A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae. Clinical presentation Clinical presentation varies, is related to hypoxia, and characteristically includes the fo...

Hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syndrom...

Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder, is a non-malignant but often-fatal disorder of immune dysregulation affecting multiple organs. Epidemiology It typically affects infants and young c...

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1. Associated malignancies sarcomas osteosarcoma rhabdomyosarcoma CNS tumors gliomas...

Neuroacanthocytosis syndromes

Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterized by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein. There are four core NAS: chorea-acanthocytosis (ChAc) McLeod syndrome (MLS) Huntington disease-like ...

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 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: P: polyneuropathy O: organomegaly hepatomegaly, splenomegaly or lymphadenopathy E: endocrinopathy diabete...

Rosai-Dorfman disease

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. Epidemiology The disease predominantly occurs in young adults with a mean age at pre...

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, 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...

Sezary syndrome

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

Sickle cell disease (acute chest syndrome)

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

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized 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 (not to be confused with Trousseau sign) represents the association between migratory thrombophlebitis and malignancy, particularly mucin producing tumors; hence one of its other names: cancer-associated thromboembolism 1. History and etymology  Armand Trousseau (1801-1867),...

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