Disease subtype

Articles

• cholesteryl ester storage disease
  2 December 2005

  CESD

• C1 inhibitor deficiency-associated systemic lupus erythematosus
  30 August 2007

  C1 inhibitor deficiency-associated SLE, Systemic lupus erythematosus with C1q deficiency, Lupus erythematosus associated with C1 inhibitor deficiency

• alpha-thalassemia
  15 January 2006

  References
  Monaco SE, Davis M, Huang AC, Bhagat G, Baergen RN, Lorenz JM, Chung WK, Thaker HM. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec;8(6):706-9. PMID: #16328666#
  Weatherall DJ. Thalassaemia: the long road from bedside to genome

• CMTXs
  15 October 2007

  X-linked Charcot-Marie-Tooth diseases

• CMT4A
  3 April 2005

  Charcot-Marie-Tooth disease type 4A

• 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: (...)

• OI type 2
  6 July 2005

  osteogenesis imperfecta type 2

• perforating granuloma annulare
  31 January 2006

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

• subcutaneous granuloma annulare
  31 January 2006

  pseudorheumatoid nodule

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