Tumoral predisposition

Articles

• Cowden disease
  2 November 2004

  multiple hamartoma syndrome, Cowden syndrome; PTEN hamartoma tumor syndrome (PHTS).
  Definition: Cowden syndrome is a rare autosomal dominant condition named after the Cowden family in which it was initially documented.
  Images
  Digestive hamartomas with neural and fatty elements, lymphoid aggs
  https://twitter.com/CArnold_GI/status/830854075944144898
  Manifestations of the syndrome include gastrointestinal, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune (...)

• Maffucci syndrome
  19 June 2003

  Maffucci, Maffucci disease, hemangiomatosis osteolytica
  Definition: Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. It is a subtype of enchondromatosis (Ollier disease) (MIM.166000) associating hemangiomas. As multiple enchondromatosis, Maffucci disease is caused by mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468).
  Images
  spindle cell hamngioma in Maffucci syndrome (...)

• renal oncocytosis
  21 February 2005

  renal oncocytomatosis
  Definition: Renal oncocytosis is a rare disorder in which numerous oncocytic nodules develop in the kidney. Renal oncocytosis is a precursor lesion of renal oncocytoma and chromophobe renal cell carcinoma.
  The renal cell neoplasms of oncocytosis seem to have distinct morphologic, immunohistochemical, and cytogenetic profiles and likely are a distinct entity, not closely related to oncocytoma or chromophobe renal cell carcinoma. (#20305535#)
  References
  Renal (...)

• MUTYH-associated polyposis
  5 June 2009

  MAP; MYH-associated polyposis
  Definition: MUTYH-associated polyposis (MAP) is a recessively inherited disorder which predisposes biallelic carriers for a high risk of polyposis and colorectal carcinoma (MAP-CRC).
  This recently recognized type of adenomatous polyposis was first documented in a Welsh kindred in which three siblings had multiple colorectal adenomas and carcinomas but lacked a germline APC mutation.
  MUTYH-associated polyposis (MAP) may be difficult to distinguish from (...)

• dyskeratosis congenita
  18 November 2003

  congenital dyskeratosis, Zinsser-Engman-Cole syndrome
  Definition: Dyskeratosis congenita (DC) is a rare inherited syndrome characterized by the triad of abnormal skin pigmentation, nail dystrophy, mucosal leucoplakia and bone marrow failure syndrome.
  Synopsis
  aplastic anemia
  bone marrow hypoplasia with bone marrow failure and pancytopenia (40%)
  bone marrow failure syndrome
  anemia
  leucopenia
  thrombopenia
  erythrokeratodermia variablis
  chronic keratoconjunctivitis
  nail (...)

• Denys-Drash syndrome
  11 February 2004

  Ent. 1967
  Synospsis
  diffuse mesangial sclerosis (DMS)
  male sex reversal (male pseudohermaphrosim)
  Etiology
  constitutional punctual mutations in the WT1 gene (zing-fingers)
  References
  Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
  Case report: WT1 exon 6 truncation mutation and ambiguous (...)

• HNPCC
  29 September 2003

  hereditary nonpolyposis colorectal cancer, Lynch syndrome

• Rothmund-Thomson syndrome
  28 October 2003

  poikiloderma atrophicans and cataract

• hereditary leiomyomatosis and renal cell cancer syndrome
  24 September 2003

  HLRCC syndrome; FH-associated RCC; FH-deficient RCC; Reed syndrome
  Definition: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cell carcinoma. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene.
  Mutations in the fumarate hydratase (FH) gene underlie HLRCC, a rare syndrome involving cutaneous and uterine leiomyomata and (...)

• Gardner syndrome
  9 August 2004

  Images
  focal matrical focus in epidermoid cyst : a clue to Gardner’s syndrome
  https://twitter.com/BenjaminAwood/status/817171629843316736
  https://www.ncbi.nlm.nih.gov/pubmed/27914683
  Synopsis
  digestive tumors predisposition
  numerous adenomatous colonic polyps (colonic adenomas)
  gastric fundic gland polyposis
  duodenal ampulloma
  adenoma of the common human bile duct (#9250908#)
  jejunal myoepithelial hamartoma
  minor dental abnormalities
  caniofacial osteomas
  mandibular (...)

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