Disease

Articles

• transient acantholytic dermatosis
  16 June 2004

  Grover disease (GD), benign papular acantholytic dermatosis, transient acantholytic dermatosis, persistent acantholytic dermatosis WKP
  Definition: Grover’s disease (GD) is a polymorphic, pruritic, papulovesicular dermatosis characterized histologically by acantholysis with or without dyskeratosis.
  Once confirmed, most cases of Grover’s disease last six to twelve months, which is why it was originally called "transient". Unfortunately it may last much longer. Nevertheless, it is not to (...)

• amyotrophic lateral sclerosis
  23 September 2003

  ALS

• 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 (...)

• staphylococcal scalded-skin syndrome
  20 January 2008

  SSSS

• 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 (...)

• juvenile hemochromatosis
  5 August 2008

  HFE2, hemochromatosis type 2

• Proteus syndrome
  25 July 2003

  Definition: Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. A mosaic activating mutation in AKT1 is associated with the Proteus syndrome. (#21793738#)
  Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome.
  Proteus (...)

• hypochondrogenesis
  19 January 2007

  Definition: Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly.
  The face appears flat and oval-shaped, with widely spaced eyes, a (...)

• NSAID-associated gastritis
  16 January 2006

  NSAID-related gastritis

• 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

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