Disease

Articles

• Wolf-Hirschhorn syndrome
  5 January 2008

  WHS

• Crohn disease
  30 December 2003

  Crohn’s disease

• familial renal tubular dysgenesis
  7 December 2004

  Autosomal recessive inheritance.
  Clinical synopsis
  Potter sequence
  skull ossification defects
  neonatal respiratory failure
  neonatal renal failure with normal echographic kidneys
  fetal and neonatal oligoanuria
  Microscopical synopsis
  lack of normal proximal tubules
  See also
  renal tubular dysgenesis
  References
  Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, (...)

• juvenile polyposis
  11 March 2004

  Juvenile polyposis syndrome; JPS; JPD; Juvenile polyposis disease; digestive juvenile polyposis
  Autosomal dominant disease.
  JPS presents in childhood or adulthood with a history of rectal bleeding. The juvenile polyps may be limited to the colorectum or generalized throughout the gastrointestinal tract. Rarely, the stomach is the principal site of involvement.
  Genetic types
  MADH4-associated juvenile polyposis (SMAD4)
  BMPR1A-associated juvenile polyposis
  Images
  Juvenile polyposis. (...)

• TAR syndrome
  12 October 2007

  thrombocytopenia-absent-radius syndrome, thrombocytopenia-absent tetraphocomelia syndrome

• lichen striatus
  17 June 2004

  Images
  Lichen striatus (lichenoid inflammation and perieccrine inflammation ) https://twitter.com/faisalmohammedi/status/834896649977802754 https://twitter.com/GBRainwater/status/854350881856344067
  Synopsis
  lichenoid inflammation
  peri-eccrine inflammation / peri-eccrine lymphocytic infiltrate
  DIFFERENTIAL:
  linear lichen planus
  lichen niditus
  inflammatory linear verrucous epidermal (...)

• ATLD
  13 April 2005

  Ataxia-telangiectasia-like disorder (ATLD)

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