Disease

Articles

• Bardet-Biedl syndrome
  29 September 2003

  BBS

• familial fatal insomnia
  4 June 2004

  FFI, an autosomal dominant disorder, is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia.
  Etiology
  mutation in the prion protein gene (PRNP) (MIM.176640)

• 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 (...)

• multiple endocrine neoplasia type 1
  19 June 2004

  Definition: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroid, pancreatic, duodenal, and pituitary neuroendocrine tumors. Nonendocrine mesenchymal tumors, such as lipomas, collagenomas, and angiofibromas have also been reported.Multiple endocrine neoplasia type I is caused by mutation in the MEN1 gene.
  Nota bene: Multiple endocrine neoplasia syndromes (MENs) - Other forms of multiple endocrine neoplasia include (...)

• Wiskott-Aldrich disease
  7 March 2004

  Wiskott-Aldrich syndrome
  The Wiskott-Aldrich syndrome (WAS) is a X-linked hematologic disorder characterized by recurrent pyogenic infection, thrombocytopenia, eczema, and immunodeficiency of variable severity. WAS is characterized by a combined immune defect.
  Images
  microthrombocytopenia
  https://twitter.com/KyleBradleyMD/status/738330158218805250
  Synopsis
  upper respiratory tract infections
  sinusitis
  otitis media
  lower respiratory tract infections
  pneumonia (...)

• cyclic neutropenia
  13 April 2004

  Etiology
  Mutations in ELA2, the gene encoding neutrophil elastase (NE)(also causes severe congenital neutropenia)
  Complications
  Enteritis necroticans with recurrent enterocutaneous fistulae caused by Clostridium perfringens (#14734887#)
  Related Articles
  References
  Horwitz M, Benson KF, Duan Z, Li FQ, Person RE. Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol Med. 2004 Apr;10(4):163-70. PMID: (...)

• Carney triad
  16 March 2004

  Ent. 1977; Nom. 1977.

• 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

• Simpson-Golabi-Behmel syndrome
  10 February 2004

  SGBS, Bulldog syndrome, X-linked dysplasia gigantism syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome

• Alexander disease
  18 March 2004

  Autosomal dominant neurological disease.
  Synopsis
  Progressive macrocephaly
  Hydrocephalus
  Diffuse demyelination
  Coarsened pattern of sulci and gyri
  Presence of Rosenthal fibers (eosinophilic bodies near astrocyte filaments) in astrocytes
  Presence of glial fibrillary acidic proteins (GFAP) in astrocytes
  Elevated CSF protein
  Etiology
  germline mutations in GFAP protein
  References
  Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev (...)

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