Disease

Articles

• focal nodular hyperplasia
  29 May 2003

  focal nodular hyperplasia of the liver, hepatic focal nodular hyperplasia, FNH (previous denomination: benign hepatoma, solitary hyperplastic nodule, focal sclerosis, hamartomatous cholangiohepatoma, mixed adenoma)

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• 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 (...)

• Bardet-Biedl syndrome
  29 September 2003

  BBS

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
  Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
  Digital cases
  HPC:90 : rectal mucosa biopsies
  HPC:98 : rectal mucosa biopsies
  HPC:151 : Hirschsprung disease - Rectal (...)

• Alagille disease
  31 May 2003

  Alagille’s syndrome, arteriohepatic dysplasia, syndromic paucity of interlobular bile ducts

• brachydactyly
  29 September 2003

  Classification
  brachydactyly type A
  brachydactyly type B
  brachydactyly type C
  brachydactyly type D
  brachydactyly type E
  Pathology
  missense mutations in the homeodomain of HOXD13 in brachydactyly type D and brachydactyly type E (#12649808#)

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• amyotrophic lateral sclerosis
  23 September 2003

  ALS

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