Disease subtype

Articles

• Kozlowski type of spondylometaphyseal dysplasia
  11 February 2008

  SMD type Kozlowski

• perforating granuloma annulare
  31 January 2006

  Definition: Epidermal perforation connected to the underlying necrobiotic granuloma annulare.

• subcutaneous granuloma annulare
  31 January 2006

  pseudorheumatoid nodule

• interstitial granuloma annulare
  31 January 2006

  Synopsis
  assessed under low power
  increased number of inflammatory cells in the dermis separated by connective tissue mucin
  inflammatory infiltrate composed of lymphocytes and histiocytes
  inflammatory cells around blood vessels and between collagen bundles.
  no well-defined areas of necrobiosis
  Differential diagnosis
  interstitial granulomatous drug reaction eosinophils (+) lichenoid changes at dermoepidermal junction true necrobiosis rarely noted
  interstitial granulomatous (...)

• early-onset sarcoidosis
  14 June 2005

  Etiology
  CARD15 mutations (#15459013#)
  References
  Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. Epub 2004 Sep 30. PMID: (...)

• hidrotic ectodermal dysplasia type 2
  18 December 2007

  ED2

• ALPS1B
  27 January 2005

  ALPS1A
  MIM.601859

  Descriptif : autosomal recessive autoimmune lymphoproliferative syndrome type 1B

• systemic cryptococcosis
  14 March 2007

  Images
  Cryptococcus disseminated to lung, spleen, kidney, thyroid. https://twitter.com/JMGardnerMD/status/866107567046610945
  Definition: Systemic infection by Cryptococcus neoformans.
  See also
  cryptococcosis (Cryptococcus neoformans)

• cholesteryl ester storage disease
  2 December 2005

  CESD

• Kallmann syndrome type 1
  20 March 2007

  X-linked form of Kallmann syndrome, KAL1

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