Disease

Articles

• cherubism
  18 May 2006

  familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw

• Waardenburg syndrome
  9 February 2006

  WS, Waardenburg syndromes

• familial juvenile systemic granulomatosis
  22 November 2004

  FJSG, arthrocutaneouveal granulomatosis, ACUG, JABS syndrome, Blau syndrome
  Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis.
  The phenotype of Blau syndrome has proven to be more complex than initially thought. The granulomatous character of Blau syndrome provides an opportunity to look at possible pathogenic effects of NOD2 ’gain of function’. (...)

• multicentric reticulohistiocytosis
  6 February 2004

  Multicentric reticulohistiocytosis is a rare disorder with proliferating histiocytes that develop into multinucleated giant cells with "ground-glass" cytoplasm. The disease presents with a rapidly destructive, sometimes permanently debilitating, polyarthritis and a papulonodular eruption, generally of the face and hands.
  Localization
  skin
  articulations
  References
  Bogle MA, Tschen JA, Sairam S, McNearney T, Orsak G, Knox JM. Multicentric reticulohistiocytosis with pulmonary (...)

• X-linked thrombocytopenia
  7 March 2004

  XLT

• TAAD
  26 February 2006

  thoracic aortic aneurysm and/or aortic dissection (TAAD)

• listeriosis
  13 February 2006

  Definition: Infection by Listeria monocytogenes.
  In acute human infections, Listeria monocytogenes evokes an exudative pattern of inflammation with numerous neutrophils.
  The meningitis it causes is macroscopically and microscopically indistinguishable from that caused by other pyogenic bacteria.
  The finding of Gram-positive, mostly intracellular, bacilli in the CSF is virtually diagnostic. More varied lesions may be encountered in neonates and immunosuppressed adults.
  Focal abscesses (...)

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