Disease

Articles

• 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

• Marfan disease
  17 November 2003

  Marfan’s disease, Marfan syndrome

• epidermolytic hyperkeratosis
  18 March 2004

  bullous ichthyosis; bullous congenital ichthyosiform erythroderma
  Images
  7 day old baby. erythrodermia and bullous lesions. https://twitter.com/crisgbellvert/status/836149943857463297
  Etiology
  germ-line mutations in the keratin-1 gene (KRT1 ) in the keratin-10 gene (KRT10 )
  Differential diagnosis
  epidermolytic acanthoma
  warts (especially of the palmoplantar type )
  epidermal nevi
  bullous ichthyosiform erythroderma
  ichthyosis (...)

• human immunodeficiency with microcephaly
  16 March 2007

  Physiopathology
  DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system.
  DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes.
  Failure to properly repair DSBs results in genetic instability, developmental delay, and various forms of (...)

• 4p- syndrome
  1 October 2003

  Wolf-Hirschhorn syndrome

• neurofibromatosis type 2
  28 October 2003

  NF2

• short-rib polydactyly syndrome type 2
  9 November 2005

  Majewski syndrome, SRPS II, SRPS2

• Rocky Mountain spotted fever
  17 May 2007

  Synopsis
  hepatic lesions portal edema portal inflammation in which large mononuclear cells and neutrophils predominate Rickettsia in portal spaces sinusoidal erythrophagocytosis hepatocytic necrosis biliary duct obstruction secondary to portal inflammation and portal edema
  hemolysis
  References
  Adams JS, Walker DH. The liver in Rocky Mountain spotted fever. Am J Clin Pathol. 1981 Feb;75(2):156-61. PMID: (...)

• short rib-polydactyly syndrome type 1
  17 May 2006

  SRPS1, SRPS type 1, Saldino-Noonan syndrome, polydactyky with neonatal chondrodystrophy, short rib-polydactyly syndrome type I

• dyschromatosis symmetrica hereditaria
  22 September 2003

  reticulate acropigmentation of Dohi, DSH

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