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 (...)

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• thrombotic microangiopathy
  15 April 2005

  thrombotic microangiopathies, Moschkowitz syndrome, TMA

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• 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)

• Klinefelter syndrome
  13 June 2003

  Klinefelter’s 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 (...)

• systemic mastocytosis
  7 April 2005

  Images
  6/M urticaria, Darier sign+; Metachromatic staining of granules by Giemsa.
  https://twitter.com/yamahalion/status/767808326553837568
  Mastocytosis of bones : woven bone
  https://twitter.com/RiyamZreikMD/status/857055677633712128
  Subtypes
  c-kit-negative systemic mastocytosis (#11446735#)
  See also
  mastocytoses
  localized mastocytosis
  solitary mastocytoma
  cutaneous mastocytosis
  systemic mastocytosis
  urticaria pigmentosa
  TMEP (telangiectasia macularis eruptiva (...)

• ataxia telangiectasia
  27 October 2003

  Definition: Ataxia telangiectasia (AT) is another autosomal recessive disorder characterized by cerebellar ataxia, progressive mental retardation, immune defects, severe muscular incoordination, and a strong predisposition to malignancy, particularly in the lymphoreticular system. The term telangiectasia describes the dilatation of blood vessels, particularly in the eyes and skin.
  Patients with this disease have several defects, including hypersensitivity to ionising radiation. Death is (...)

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