Disease

Articles

• 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 (...)

• Griscelli disease
  17 September 2003

  Griscelli syndrome

• celiac disease
  6 April 2004

  coeliac disease; celiac sprue; gluten-sensitive enteropathy
  Definition: Celiac disease is a common autoimmune condition triggered by ingesting one of several related proteins found in wheat, barley, and rye: the gliadins, hordeins, and secalins.
  In susceptible persons, ingestion of these proteins leads to infiltration of the intestinal mucosa by both intraepithelial CD8+ lymphocytes and CD4+ lamina propria lymphocytes and, ultimately, to crypt hyperplasia and villous atrophy.
  Symptoms (...)

• Goldberg-Shprintzen syndrome
  25 June 2005

  Definition: Goldberg-Shprintzen syndrome associates microcephaly, mental retardation, Hirschsprung disease, bilateral generalized polymicogyria.
  The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma.
  GSS is a rare condition within the group of patients with MR and (...)

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

• Pick disease
  23 April 2005

  Definition: Pick disease (lobar atrophy) is a rare, distinct, progressive dementia characterized clinically by early onset of behavioral changes together with alterations in personality (frontal lobe signs) and language disturbances (temporal lobe signs).
  While most cases of Pick disease are sporadic, there have been some familial forms identified and linked to mutations in tau.
  Pick disease belongs to a class of neurodegenerative diseases known as frontotemporal dementia (FTD) (...)

• invasive aspergillosis
  9 June 2004

  Invasive Aspergillus infection
  Digital cases
  HPC:421 : cerebral aspergillosis
  HP:11369 : Pulmonary aspergillosis
  Synopsis
  remote localizations cerebral aspergillus abcess

• ranula
  17 July 2003

  ptyalocele, sialocele, sublingual cyst

• granulomatosis with polyangiitis
  8 July 2005

  Wegener granulomatosis; GPA
  Definition: Wegener granulomatosis is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera.
  Images
  mastoid
  https://twitter.com/chioseasi/status/700798795068538880
  Wegener’s Granulomatosis in lung with vasculitis (...)

• giant cell arteritis
  15 April 2005

  giant-cell arteritis; temporal arteritis
  Images
  Temporal arteritis https://twitter.com/dmlarsonpath1/status/862295348177448962
  Digital slides
  UI:623 - Temporal arteritis: Vasculitis, giant cell arteritis
  Synopsis
  abundant multinucleate giant cells
  mononulear cell inflammatory infiltrate
  parietal fibrosis with marked narrowing of the lumen
  Etiology
  - temporal arteritis
  References
  Salvarani C, Cantini F, Boiardi L, Hunder GG. Polymyalgia rheumatica and giant-cell (...)

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