Disease

Articles

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• 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 (...)

• carnitine palmitoyltransferase deficiency type 2
  18 March 2005

  CPT2

• trisomy 22
  9 May 2005

  Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.
  Types
  non-mosaic (...)

• 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

• Castleman disease
  27 April 2004

  Castleman’ s disease

• Erdheim-Chester disease
  8 October 2003

  Ent. Chester, 1930. Nom. Chester, 1930.
  Definition: Erdheim-Chester disease is a very rare xanthogranulomatous, non-Langerhans cell systemic histiocytosis with an unknown etiology and pathogenesis. It involves the marrow space of the long bones.
  Extraosseous sites most commonly affected include the eyes, lungs, pituitary glands, and kidneys.
  Erdheim-Chester disease (ECD) is a rare, potentially fatal multiorgan myeloid neoplasm occurring mainly in adults.
  The diagnosis is established by (...)

• acute appendicitis
  2 September 2004

  Digital cases
  HPC:25 : acute appendicitis
  HPC:94 : acute appendicitis
  HPC:368 : Granulation tissue after acute appendicitis
  Videos
  Acute appendicitis (by Washington Deceit)
  Peri-appendiceal abscess (by Washington Deceit)
  Laparoscopic appendicectomy
  See also
  appendicectomy (videos)
  References
  Lamps LW. Appendicitis and infections of the appendix. Semin Diagn Pathol. 2004 May;21(2):86-97. PMID: #15807469#
  References
  Minimal added value of further blocks in negative (...)

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
  Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
  Digital cases
  HPC:90 : rectal mucosa biopsies
  HPC:98 : rectal mucosa biopsies
  HPC:151 : Hirschsprung disease - Rectal (...)

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