Disease subtype

Articles

• perforating granuloma annulare
  31 January 2006

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

• 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 (...)

• subcutaneous granuloma annulare
  31 January 2006

  pseudorheumatoid nodule

• congenital cystic adenomatoid malformation type IV
  15 March 2004
• ARVD2
  4 December 2009

  arrhythmogenic right ventricular cardiomyopathy type 2; arrhythmogenic right ventricular dysplasia type 2; arrhythmogenic right ventricular dysplasia locus 2

• Kallmann syndrome type 1
  20 March 2007

  X-linked form of Kallmann syndrome, KAL1

• cholesteryl ester storage disease
  2 December 2005

  CESD

• Kozlowski type of spondylometaphyseal dysplasia
  11 February 2008

  SMD type Kozlowski

• ALPS1B
  27 January 2005

  ALPS1A
  MIM.601859

  Descriptif : autosomal recessive autoimmune lymphoproliferative syndrome type 1B

• 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: (...)

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