Disease

Articles

• X-linked Emery-Dreifuss muscular dystrophy
  14 November 2003

  EDMD

• ulcerative colitis
  2 March 2004

  Definition: Ulcerative colitis (UC) is generally considered an inflammatory disorder that always involves the rectum and may also involve more proximal portions of the colon, but always in a diffuse and continuous (non-segmental) fashion.
  Earlier biopsy studies have shown that both rectal sparing and patchy disease may occur during the natural history of UC and may, in fact, be accentuated by oral or enema therapy. (#20410806#)
  Images
  ulcerative colitis : ruptured crypt granuloma : (...)

• Muir-Torre syndrome
  4 May 2004

  Definition: The Muir-Torre syndrome is an autosomal-dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies.
  Images
  sebaceous carcinoma in Muir-Torre syndrome
  https://twitter.com/Konzult_/status/723984883744428033
  https://twitter.com/KUSAURAP/status/695107281730433024
  https://twitter.com/Levelsx5/status/735204830055137280
  Synopsis
  early onset colonic diverticula
  cutaneous tumors (...)

• Bannayan-Riley-Ruvalcaba syndrome
  5 March 2004

  BRRS; Bannayan-Ruvalcaba-Riley-Smith syndrome; Bannayan-Zonana syndrome ; Riley-Smith syndrome ; Ruvalcaba-Myhre-Smith syndrome ; Macrocephaly, pseudopapilledema, multiple hemangiomata ; Macrocephaly, multiple lipomas, hemangiomata

• fibrodysplasia ossificans progressiva
  30 September 2009

  Definition: Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification in distinct anatomic patterns.
  Early preosseous lesions in FOP are clinically and histologically indistinguishable from the lesions of aggressive juvenile fibromatosis (AJF).
  Although the genetic defect in FOP is unknown, bone morphogenetic proteins (BMPs) 2 (BMP2) and 4 (BMP4) are plausible candidates genes. (...)

• Niemann-Pick disease type C
  30 May 2003

  Niemann-Pick disease type C, NPC

• 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 (...)

• 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 (...)

• placental infections
  11 January 2005

  Examples
  placental CMV infection
  placental parvovirus B19 infection
  Candida albicans
  Fusobacterium sp.
  Listeria monocytogenes
  Images
  Fetal parvovirus B19 infection.Erythroid precursors contain ground-glass nuclear inclusions
  https://twitter.com/Heidi_Lehrke_DO/status/697136509015629825
  Synopsis
  acute subchorionitis
  acute chorionitis
  acute chorioamnionitis
  necrotizing chorioamnionitis
  villitis
  intervillositis
  amnionitis
  acute chorioamnionitis
  Etiology (...)

• osteoporosis-pseudoglioma syndrome
  1 October 2003

  Etiology
  LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype (#12579474#)
  References
  Audrey Koay M, Brown MA. Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton. Trends Mol Med. 2005 Mar;11(3):129-37. PMID: #15760771#

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