Disease

Articles

• 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 (...)

• 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 (...)

• dermatomyositis
  4 February 2005

  juvenile dermatomyositis
  Images
  4M gottron papules, ulcers, nailfold telangiectasias, heliotrope, prox muscle weakness : juvenile dermatomyositis
  https://twitter.com/globaldermie/status/782431839197753344
  Juvenile dermatomyositis. 15 y/o F w/ Gottron’s lesions, dorsal hands, elbows & knees, ⇈ muscle enzymes & joint problems. Elbow bx
  https://twitter.com/Dermpathl/status/811239150758273024
  Synopsis
  dermatomyositis-associated cardiomyopathy
  dermatomyositis-associated (...)

• propionic acidemia
  31 July 2008

  propionyl-CoA carboxylase deficiency

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• 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 (...)

• enchondromatosis
  19 June 2003

  osteochondromatosis, dyschondroplasia
  Synopsis
  cartilagenous tumours (bone, trachea) multiple osteochondromas(osteochondromatosis) chondrosarcoma
  asymmetric tubular bone abnormality
  ovarian juvenile granulosa cell tumor (precocious pseudopuberty)
  Types
  Ollier disease
  Maffucci disease
  Etiology
  mutation in the PTH/PTHRP type I receptor (PTHR1; MIM.168468). The PTHR1 gene encodes a receptor for both parathyroid hormone (MIM.168450) and parathyroid hormone-related protein (...)

• Beckwith-Wiedemann syndrome
  17 September 2003

  Wiedemann-Beckwith syndrome

• human immunodeficiency with microcephaly
  16 March 2007

  Physiopathology
  DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system.
  DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes.
  Failure to properly repair DSBs results in genetic instability, developmental delay, and various forms of (...)

• Fabry disease
  24 September 2003

  Fabry’s disease, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ruiter-Pompen-Wyers syndrome, Ceramide trihexosidosis, Sweeley-Klionsky disease
  Definition: Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)
  Fabry disease is an X-linked generalized progressive debilitating lysosomal storage disorder. The disease usually (...)

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