Disease

Articles

• 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

• 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 (...)

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• thrombotic microangiopathy
  15 April 2005

  thrombotic microangiopathies, Moschkowitz syndrome, TMA

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• extralobar pulmonary sequestration
  29 October 2003

  extra-pulmonary sequestration ; ELPS
  Definition: Extralobar pulmonary sequestration (ELPS) are segmentsof lung tissue ("accessory lungs") with a distinct pleural investment and complete anatomic and physiologic seprartion from the normal lung. Blood supply is usually by anomalous systemic artery with venous drainage into the azygos or hemizygos system.
  The abnormal tissue may be located either above or below the diaphragm, most often on the left side.
  Images
  Extrapulmonary (...)

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• 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 (...)

• Tourette syndrome
  3 September 2004

  Gilles de la Tourette syndrome

• cerebral arteriovenous malformation
  14 March 2005

  cerebral vascular malformation; cerebral cavernous hemangioma
  Digital cases
  Case 227 : Cerebral arteriovenous malformation
  Image
  https://twitter.com/JMGardnerMD/status/725034207789993984
  Predisposition syndromes
  autosomal dominant familial cerebral arteriovenous malformation
  hereditary hemorrhagic telangiectasia (HHT) (MIM.187300)
  hereditary neurocutaneous angioma (MIM.106070)
  Differential diagnosis
  cerebral cavernous malformations (MIM.116860) which are venous and usually (...)

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