Disease subtype

Articles

• Ehlers-Danlos syndrome type 4
  24 January 2005

  Ehlers-Danlos syndrome type IV, EDS4

• 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: (...)

• cholesteryl ester storage disease
  2 December 2005

  CESD

• EDS2
  24 January 2005

  Ehlers-Danlos syndrome type II

• 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

• 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 (...)

• undeterminate colitis
  8 November 2004

  indeterminate colitis
  Reference
  Prognostic significance of superficial fissuring ulceration in patients with severe "indeterminate" colitis. Yantiss RK, Farraye FA, O’Brien MJ, Fruin AB, Stucchi AF, Becker JM, Reddy SI, Odze RD. Am J Surg Pathol. 2006 Feb;30(2):165-70. PMID: #16434889#

• hidrotic ectodermal dysplasia type 2
  18 December 2007

  ED2

• EDS1
  14 November 2003

  Ehlers-Danlos syndrome type I

• perforating granuloma annulare
  31 January 2006

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

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