Disease

Articles

• subcutaneous fat necrosis of the newborn
  11 June 2004

  Cutaneous fat necrosis of the newborn
  Definition: Subcutaneous fat necrosis of the newborn (SCFN) is a rare disorder with different etiologies. There are no epidemiologic data available for SCFN.
  Images
  Subcutaneous fat necrosis of newborn : lobular panniculitis with needle-shaped clefts in radial array
  https://twitter.com/JJSpeiserMD/status/793158471533338624
  Clinical synopsis
  Subcutaneous fat necrosis of the newborn (SCFN) is characterized by painful, firm, erythematous nodules (...)

• autosomal recessive polycystic kidney disease
  6 October 2003

  ARPKD, familial dysplasia of the kidneys, liver and pancreas, Ivemark’s hepato-reno-pancreatic dysplasia, Ivemark II syndrome

• hereditary hypofibrinogenemia
  6 August 2007

  Definition: Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinogen, caused by mutations within 1 of the 3 fibrinogen genes.
  Etiology
  As hereditary afibrinogenemia, hereditary hypofibrinogenemia is the result of mutation in one or another of the 3 fibrinogen genes, alpha (FGA) (MIM.134820), beta (FGB) (MIM.134830), or gamma (FGG) (MIM.134850).
  Complete absence of detectable fibrinogen, true congenital afibrinogenemia, was first demonstrated (...)

• ornithine transcarbamyl transferase deficiency
  30 May 2003

  OTC deficiency

• Castleman disease
  27 April 2004

  Castleman’ s disease

• extralobar pulmonary sequestration
  29 October 2003

  extra-pulmonary sequestration ; ELPS
  Definition: Extralobar pulmonary sequestration (ELPS) are segmentsof lung tissue ("accessory lungs") with a distinct pleural investment and complete anatomic and physiologic seprartion from the normal lung. Blood supply is usually by anomalous systemic artery with venous drainage into the azygos or hemizygos system.
  The abnormal tissue may be located either above or below the diaphragm, most often on the left side.
  Images
  Extrapulmonary (...)

• pentalogy of Cantrell
  19 December 2005

  THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• fibroepithelial polyp
  17 June 2003

  skin tag, acrochordon, skin tags, soft fibromas, fibroepithelial polyps, FEP, fibroma pendulans, pedunculated fibromas, soft warts; molluscum pendulum
  Definition: Epithelial polyps are common fibroepithelial protuberant neoplasms that occur with advancing age predominantly on the trunk, head, and neck.
  The fibroepithelial polyp is perhaps the most common cutaneous neoplasm. Variously termed skin tag, acrochordon, and squamous papilloma (a misnomer in that these are polypoid and formed by (...)

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

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