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 (...)

• Prader-Willi syndrome
  2 October 2003

  1956 - Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, Guido Fanconi.
  Definition: Prader-Willi syndrome (PWS) is characterized by psychomotor and growth retardation, infantile hypotonia, characteristic facies, small hands and feet, dental abnormalities, and early onset of childhood hyperphagia with consequent obesity.
  PWS is associated with abnormalities of chromosome 15. Approximately 75% of patients have a deletion of 15q11q13 on the paternal homologue, whereas 20-25% (...)

• pentalogy of Cantrell
  19 December 2005

  THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy

• Gaucher disease
  1 October 2003

  Definition: Gaucher disease refers to a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. Acid beta-glucocerebrosidase, also known as beta-glucosidase (GBA) (EC 3.2.1.45), is a lysosomal enzyme that catalyzes the breakdown of the glycolipid glucosylceramide to ceramide and glucose.
  This disease is the most common lysosomal storage disorder. The affected gene encodes glucocerebrosidase, an enzyme that normally cleaves the glucose (...)

• Cowden disease
  2 November 2004

  multiple hamartoma syndrome, Cowden syndrome; PTEN hamartoma tumor syndrome (PHTS).
  Definition: Cowden syndrome is a rare autosomal dominant condition named after the Cowden family in which it was initially documented.
  Images
  Digestive hamartomas with neural and fatty elements, lymphoid aggs
  https://twitter.com/CArnold_GI/status/830854075944144898
  Manifestations of the syndrome include gastrointestinal, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune (...)

• Fryns syndrome
  17 May 2004

  variable multiple congenital anomaly syndrome, MCA syndrome

• 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 (...)

• Barrett esophagus
  29 October 2003

  Barrett’s oesophagus, Barrett oesophagus, Barrett’s esophagus; Barrett mucosa; Barrett metaplasia; metaplastic endobrachyesophagus
  See also : endobrachyesophagus
  Images
  PAS and Alcian Blue stain in Barrett esophagus
  https://twitter.com/suraksharaob/status/763422410494185472
  http://www.webpathology.com/case.asp?case=185
  adenocarcinoma in Barrett esophagus mucosa
  https://twitter.com/ARP_Press/status/731118754193674240
  Links
  at Johns Hopkins Pathology (...)

• 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 ++
  https://twitter.com/JRamirezMD/status/782747788907991040
  Secondary syphilis: "condyloma" appearance. Dense plasma (...)

• trisomy 18
  27 January 2005

  Edward Syndrome, trisomy E
  Definition: Trisomy 18 (1/5000 live births) presents with a great phenotypic variability. Intrauterine growth retardation (IUGR) with normal or increased amniotic fluid volume, craniofacial dysmorphism (strawberry-shaped head, micrognathia, choroid plexus cyst), congenital heart disease, omphalocele, large cisterna magna, and abnormal extremities (clenched hands and rocker-bottom feet) are frequently observed anomalies.
  At least 30% of affected fetuses have (...)

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