Disease

Articles

• Niemann-Pick disease type B
  15 August 2012

  NPDB; acid sphingomyelinase deficiency
  Definition: NPD type B is a rare inborn error of metabolism of autosomal recessive inheritance. Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. NPDB is caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1) (MIM.607608)
  Digital slides
  Case 52 (HPC:52) : Liver in (...)

• 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 (...)

• syphilis
  18 October 2005

  Definition: Treponema pallidum subspecies pallidum is the microaerophilic spirochete that causes syphilis, a chronic venereal disease with multiple clinical presentations.
  Images
  Primary syphilis - Chancre
  https://twitter.com/JHW806/status/733298742502129666
  Secondary syphilis: psoriasiform pattern + lichenoid infiltrate with histiocytes great clue. Plasma cells ++ plasmacytic infiltration.
  https://twitter.com/JRamirezMD/status/782747788907991040 (...)

• 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 (...)

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• neurofibromatosis type 2
  28 October 2003

  NF2

• tinea versicolor
  14 June 2004

  synonyms: pityriasis versicolor

• 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 (...)

• myotonic dystrophy type 1
  27 January 2005

  Steinert disease

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