Disease

Articles

• Birt-Hogg-Dube syndrome
  27 November 2004

  Definition: Birt-Hogg-Dube syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons, and concurrent internal tumors, such as colonic polyps and renal carcinoma.
  Birt-Hogg-Dube syndrome (BHD) is caused by mutation in the gene FLCN encoding folliculin (MIM.607273)
  Synopsis
  pulmonary lesions
  pulmonary cysts (pulmonary basilar cysts - pulmonary cysts of the Birt-Hogg-Dube syndrome)
  pleuropulmonary blebs
  spontaneous (...)

• actinomycosis
  7 April 2005

  Synopsis
  sulfur granule
  Digital case
  JRC:410 : pulmonary actinomycosis.
  Images
  tubal actinomycosis : pyosalpinx / Actinomyces sp. https://twitter.com/solcosao/status/715295386072559617
  sulfur granule / intestinal actinomycosis https://twitter.com/REP_Patologia/status/1078543968789581824
  Localization
  pulmonary actinomycosis
  cervicofacial actinomycosis
  periapical actinomycosis
  pelvic actinomycosis
  tubal actinomycosis
  mammary actinomycosis
  adrenal actinomycosis (...)

• epidermolysis bullosa with pyloric atresia
  5 February 2006

  EB-PA

• MMIH syndrome
  12 October 2004

  megacystis-microcolon syndrome, megacystis-microcolon-intestinal hypoperistalsis syndrome

• Kawasaki disease
  16 December 2005

  mucocutaneous lymph node syndrome, MCLS

• Kostmann disease
  21 September 2007

  SCN3, severe congenital neutropenia type 3, autosomal recessive severe congenital neutropenia

• Goodpasture syndrome
  12 May 2004

  Microscopy
  Linear IgG deposition along glomerular basement membrane by immunofluorescence.
  This type of linear deposits may also be seen along alveolar septa in the lung.
  Localization
  pulmonary Goodpasture syndrome
  renal Goodpasture syndrome
  Videos
  Pulmonary Goodpasture syndrome by Washington Deceit
  References
  Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport’s syndrome, Goodpasture’s syndrome, and type IV collagen. N Engl J Med. 2003 Jun 19;348(25):2543-56. PMID: (...)

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