Disease

Articles

• hypotrichosis-lymphedema-telangiectasia
  25 September 2003

  Etiology
  mutations in the transcription factor gene SOX18

• cutaneous lupus erythematosus
  17 June 2004

  Digital case
  JRC:10585 : Cutaneous lupus erythematosus.
  Images
  40F Asia x 10yrs, plenty of sun exposure. https://twitter.com/globaldermie/status/734923070532681732
  SUBTYPES
  systemic lupus erythematosus
  subacute cutaneous lupus erythematosus
  discoid lupus erythematosus
  neonatal lupus erythematosus
  DIFFERENTIAL
  dermatomyositis
  Sjogren syndrome
  lupus-like drug reactions
  polymorphous light eruptions
  Jessner’s lymphocytic infiltrate
  lichenoid actinic (...)

• paraneoplastic pemphigus
  5 February 2006

  Associations
  Lymphomas
  Castleman tumor (#10459112#, #10459112#, #12095881#)
  myasthenia gravis (#10459112#)
  bronchiolitis obliterans (#10459112#, #10459112#, #12095881#)
  References
  Paraneoplastic pemphigus: a review of the literature. Allen CM, Camisa C. Oral Dis. 2000 Jul;6(4):208-14. PMID: #10918557#
  Paraneoplastic pemphigus associated with Castleman’s disease: usefulness of the laboratory of autoimmunity in the diagnosis of this disease. Alarcón-Torres I, Bastida-Iñarrea J, (...)

• idiopathic congenital intestinal pseudo-obstruction
  4 April 2005

  CIIP, pediatric intestinal pseudo-obstruction, IPO, childhood chronic intestinal pseudo-obstruction

• idiopathic eosinophilic gastroenteritis
  1 March 2004
• neonatal necrotizing enterocolitis
  6 April 2004

  NNEC, necrotizing enterocolitis of the neonate

• food protein-induced enterocolitis
  16 June 2005
• hereditary mixed polyposis syndrome
  26 September 2003

  HMPS, CRAC1,
  The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps ( MIM.174900 ), colonic adenomas, and colorectal carcinomas. Many polyps are mixed in pattern.
  The term ‘mixed’ relates both to the variety of polyps observed in this condition and the presence of polyps with features reminiscent of more than one of the classic types of colorectal polyp.
  Synopsis
  Hereditary syndrome characterized by the appearance of various types of polyps, many of (...)

• digestive angiodysplasia
  27 October 2003

  Microscopical synopsis
  ectatic, engorged submucosal veins
  some dilated venules and capillaries in the mucosal lamina propria
  Associations
  aortic stenosis (#12226167#)

• lissencephaly type 1
  2 February 2006

  LIS1, lissencephaly type I

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