Articles
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25 results found
Article
Superior vena cava obstruction
Superior vena cava obstruction (SVCO) can occur from extrinsic compression, intrinsic stenosis, or thrombosis of the superior vena cava. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms tha...
Article
WAGR syndrome
WAGR syndrome or complex stands for:
Wilms tumors (greatly increased risk)
aniridia
genitourinary anomalies
intellectual disability
Pathology
Genetics
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
Article
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...
Article
Anterior resection syndrome
Anterior resection syndrome refers to a wide spectrum of symptoms that develop following sphincter-preserving anterior resection of the rectum.
Epidemiology
There have been reports that ~50% of patients who undergo anterior resection for rectal cancer develop anterior resection syndrome 2.
Ri...
Article
Von Hippel-Lindau disease
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.
Epidemiology
The disease is rare with an estimated prevalence of 1:35,000-50,...
Article
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...
Article
DICER1 syndrome
DICER1 syndrome is a rare autosomal dominant disorder predisposing individuals to the development of multiple tumor types.
Epidemiology
DICER1 syndrome most commonly manifests in children, adolescents and young adults 8.
Clinical presentation
The clinical presentation will depend on the pa...
Article
Cowden syndrome
Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Terminology
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of ...
Article
Hereditary breast and ovarian cancer syndrome
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Article
POEMS syndrome
POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder including the following features:
P: polyneuropathy
O: organomegaly
E: endocrinopathy
M: monoclonal gammopathy
S: skin changes
Clinical presentation
The diagnostic criteria differ from the acronym. Accordi...
Article
Hemophagocytic lymphohistiocytosis
Hemophagocytic 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.
Epidemiology
It typically affects infants and yo...
Article
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.
Up to two-thirds of LEMS present as a paraneoplastic syndro...
Article
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 characterized by a widespread erythema, edema and ulceration of the hands and feet.
Causative drugs
Many chemotherapeutic...
Article
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 predom...
Article
Familial adenomatous polyposis
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.
Terminology
Familial polyposis coli and attenuated familial adenomatous polyposis are variants of the same disease a...
Article
Carney-Stratakis syndrome
Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastrointestinal stromal tumor (GIST).
Terminology
It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney co...
Article
Hyperparathyroidism-jaw tumor syndrome
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.
Epidemiology
Approximately 200 cases have been reported in the med...
Article
Trousseau syndrome
Trousseau syndrome is an inconsistently defined entity which broadly represents the association between thromboembolism and malignancy, often prior to or concomitantly with the diagnosis of the underlying malignancy 1.
The syndrome has been variably defined to include entities such as migratory...
Article
Sézary syndrome
Sézary syndrome (SS) is a type of primary cutaneous T-cell lymphoma.
Clinical presentation
It is clinically characterized 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...
Article
Cachexia
Cachexia is a syndrome of metabolic dysfunction secondary to an underlying disease in which there is depleted skeletal muscle (sarcopenia) which may or may not be accompanied by an absolute loss of body fat.
Terminology
Cancer cachexia is specifically used to refer to the cachexia associated ...
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