Anterior resection syndrome refers to wide spectrum of symptoms which develop post-sphincter preserving rectal resection for rectal cancer.
Pelvic radiotherapy is a known risk factor to develop anterior resection syndrome.
Symptoms include but are not limited to:
Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia 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 macroglobul...
Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma.
It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex.
DICER1 syndrome is a rare autosomal dominant disorder predisposing individual to the development of multiple tumor types. DICER1 is considered a tumor suppressor gene that encodes the endoribonuclease protein Dicer. The first association with pleuropulmonary blastoma was discovered in 2009.
Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of:
Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes.
Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi (often more than 50) and a family history of melanoma.
It is associated with mutations in the CDKN2A gene and shows reduced penetranc...
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.
It typically affects infants and young c...
Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterized by a widespread erythema, edema and ulceration of the hands and feet.
Hyperparathyroidism-jaw tumor syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumors, most notably, tumors in the mandible or maxilla 2.
Approximately 200 cases have been reported in the med...
Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune etiology.
LEMS is the second most common neuromuscular junction disease after myasthenia gravis.
Two-thirds of LEMS present as a paraneoplastic syndrome sec...
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
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.
The estimated incidence is 1 in 100,000-125,000 live births 5.
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).
It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of...
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 obstruc...
Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized 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 predo...
The syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) (also known as Schwartz-Bartter syndrome) was initially described in patients with lung cancer who developed hyponatremia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in whi...
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),...
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-50,...
The WAGR syndrome stands for:
Wilms tumors (greatly increased risk)
intellectual retardation (disability)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.