Disease

Articles

• ABCA3 deficiency
  4 April 2008

  ABCA3-associated pulmonary diseases

• laryngeal papillomatosis
  29 April 2005

  Multiple papillomas on laryngeal mucosa. In children, they are related to HPV and frequently recur. They can cause respiratory obstruction and can be life threatening. Rarely do they undergo malignant transformation.

• progressive osseous heteroplasia
  30 September 2009

  Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS1 gene leading to an inactivation of the alpha subunit of the G protein-complex.
  See also
  inherited ossifying diseases
  References
  Inherited ossifying diseases. Job-Deslandre C. Joint Bone Spine. 2004 (...)

• Maffucci syndrome
  19 June 2003

  Maffucci, Maffucci disease, hemangiomatosis osteolytica
  Definition: Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. It is a subtype of enchondromatosis (Ollier disease) (MIM.166000) associating hemangiomas. As multiple enchondromatosis, Maffucci disease is caused by mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468).
  Images
  spindle cell hamngioma in Maffucci syndrome (...)

• 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 (...)

• Rothmund-Thomson syndrome
  28 October 2003

  poikiloderma atrophicans and cataract

• 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 (...)

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