Disease subtype

Articles

• hidrotic ectodermal dysplasia type 2
  18 December 2007

  ED2

• Dowling-Meara type epidermolysis bullosa simplex
  16 April 2005

  Dowling-Meara type epidermolysis bullosa simplex is considered a form of epidermolysis bullosa simplex (EBS) distinguishable from the mild localized Weber-Cockayne type (MIM.131800) and the generalized Kobner (or Koebner) type (MIM.131900) both by its greater severity and by the presence on electron microscopy of large cytoplasmic clumps of tonofilaments, which are intermediate filaments composed of keratin.
  Synopsis
  blisters
  structural weakening of the epidermal basal cells, where (...)

• Kallmann syndrome type 1
  20 March 2007

  X-linked form of Kallmann syndrome, KAL1

• EDS1
  14 November 2003

  Ehlers-Danlos syndrome type I

• OI type 2
  6 July 2005

  osteogenesis imperfecta type 2

• congenital cystic adenomatoid malformation type IV
  15 March 2004
• 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

• 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#

• subcutaneous granuloma annulare
  31 January 2006

  pseudorheumatoid nodule

• perforating granuloma annulare
  31 January 2006

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

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