Disease group (semiology)

Articles

• chondrodysplasia punctata
  14 January 2005

  stippled epiphysis, chondrodysplasia calcificans congenita, CPD

• diffuse lung disease in infancy
  4 February 2010

  DLDI, infantile chronic pneumonia, chronic pneumonia of infancy, diffuse lung disease in young children

• Cowden-like syndromes
  26 August 2008

  Etiology
  germline mutations in PTEN gene (MIM.601728) SDHB of succinate dehydrogenase (#18678321#) SDHD of succinate dehydrogenase (#18678321#) BMPR1A gene (MIM.601299) (BMPR1A-associated Cowden-like syndrome)
  See also
  Cowden disease (MIM.158350)
  References
  Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 (...)

• inherited ichthyoses
  27 October 2010

  inherited ichthyosis

• familial lentiginoses
  2 November 2004

  Classification
  Peutz-Jeghers syndrome (MIM.175200)
  Carney complex (MIM.160980)
  Cowden syndrome (or Cowden disease) (MIM.158350)
  Bannayan-Riley-Ruvalcaba syndrome (MIM.153480)
  References
  Bauer AJ, Stratakis CA. The lentiginoses: Cutaneous markers of systemic disease and a window to new aspects of tumorigenesis. J Med Genet. 2005 Jun 15 PMID: #15958502#
  Stratakis CA. Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. Horm Res. 2000;54(5-6):334-43. (...)

• sclerosing epithelial tumors
  5 May 2004

  sclerosing epithelial neoplasms

• inflammatory dermatoses
  11 May 2004

  Classification
  neutrophilic dermatoses

• neutrophilic dermatoses
  11 May 2004
• sclerosing cutaneous tumors
  5 May 2004

  Types
  sclerosing epithelial tumors
  sclerosing mesenchymal tumors

• cutaneous squamous lesions
  28 June 2004

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