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

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• 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)

• 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 (...)

• 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 (...)

• osteogenesis imperfecta
  26 May 2004

  Autosomal dominant disease.
  Synopsis
  systemic anomalies
  perinatal death
  premature birth
  nonimmune hydrops
  low birth weight
  ocular anomalies
  blue sclerae
  craniofacial anomalies
  beaked nose
  large fontanelles
  platyspondyly
  skeletal anomalies
  short limb dwarfism
  beaded ribs
  numerous multiple fractures present at birth
  soft calvaria
  absent calvarial mineralization
  hips usually flexed and abducted (frog-leg position)
  flattened acetabulae and iliac wings (...)

• dermatitis herpetiformis
  29 June 2004

  herpetiform dermatitis
  Definition: Dermatitis herpetiformis is characterized by papules, vesicles, and occasional bullae on an erythematous, often urticarial base.
  Dermatitis herpetiformis is associated with gluten-sensitive enteropathy. It causes small pruritic vesicles.
  Histologically it shows papillary neutrophilic microabscesses and a mixed dermal inflammatory infiltrate. DIF shows a granular pattern of IgA in the dermal papillae.
  Digital cases
  UI:924 - Dermatitis herpetiformis (...)

• asthma
  12 November 2003

  Definition: Asthma is a chronic respiratory condition that affects children and adults. Genetic predisposition and environmental factors interact to produce the disease.
  Images
  Asthma; airway parietal edema , smooth muscle hyperplasia , mucus gland hyperplasia
  https://twitter.com/H_Elshoni/status/747268830955593729
  Types
  acute asthma
  chronic asthma
  Synopsis
  mucus plugs
  mucosal eosinophilic infiltrate
  mucosal basement membrane thickening with sunmembranous collagen (...)

• Maffucci syndrome
  19 June 2003

  Maffucci, Maffucci disease, hemangiomatosis osteolytica
  Definition: Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. It is a subtype of enchondromatosis (Ollier disease) (MIM.166000) associating hemangiomas. As multiple enchondromatosis, Maffucci disease is caused by mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468).
  Images
  spindle cell hamngioma in Maffucci syndrome (...)

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