Disease

Articles

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• 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 (...)

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• cryptococcosis
  14 March 2007

  cryptococcal infections, cryptococcoses

• Pfeiffer syndrome
  1 December 2004

  acrocephalosyndactyly, Noack syndrome, craniofacial-skeletal- dermatologic dysplasia

• 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 (...)

• 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 (...)

• short rib-polydactyly syndromes
  26 May 2004

  short rib-polydactyly syndrome group, SRPSs

• Carney triad
  16 March 2004

  Ent. 1977; Nom. 1977.

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1050