Literature DB >> 23183778

[Important genodermatoses for the practitioner].

P Itin1, D A Salgado.   

Abstract

Health or disease is a result of the genetic constellation and environmental influences. The phenotype of monogenic diseases is highly influenced by one single mutation. According to the WHO more than 10,000 monogenic diseases exist while for 1,000 diseases a molecular genetic test is available. Genodermatoses are well-documented and characterized; the most important data base for the diagnosis is the Online Mendelian Inheritance of Men data base, which can be searched in Google with the keyword "OMIM". Here genetic diseases are categorized and clinically described. We present our own epidemiologic data from the Department of Dermatology, University Hospital Basel, concerning genodermatoses. Our results show that the most common genodermatoses seen in the daily practice are porokeratoses, ichthyoses, Darier disease, neurofibromatosis and epidermolysis bullosa. They account for 91% of all genodermatoses seen in a hospital-based dermatology department of Dermatology.

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Year:  2013        PMID: 23183778     DOI: 10.1007/s00105-012-2409-9

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  7 in total

Review 1.  A HapMap harvest of insights into the genetics of common disease.

Authors:  Teri A Manolio; Lisa D Brooks; Francis S Collins
Journal:  J Clin Invest       Date:  2008-05       Impact factor: 14.808

Review 2.  Inherited epidermolysis bullosa: new diagnostic criteria and classification.

Authors:  Lizbeth R A Intong; Dédée F Murrell
Journal:  Clin Dermatol       Date:  2012 Jan-Feb       Impact factor: 3.541

Review 3.  [Genodermatoses for practitioners--principles and concepts].

Authors:  Peter H Itin; Bettina Burger
Journal:  Ther Umsch       Date:  2010-09

Review 4.  Cancer proneness of linear porokeratosis may be explained by allelic loss.

Authors:  R Happle
Journal:  Dermatology       Date:  1997       Impact factor: 5.366

5.  A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

Authors:  Joanna Amberger; Carol Bocchini; Ada Hamosh
Journal:  Hum Mutat       Date:  2011-04-05       Impact factor: 4.878

6.  Phenotypic and genotypic analyses of genetic skin disease through the Online Mendelian Inheritance in Man (OMIM) database.

Authors:  Jamison D Feramisco; Ruslan I Sadreyev; Mitzi L Murray; Nick V Grishin; Hensin Tsao
Journal:  J Invest Dermatol       Date:  2009-06-18       Impact factor: 8.551

Review 7.  One remarkable molecule: filaggrin.

Authors:  Sara J Brown; W H Irwin McLean
Journal:  J Invest Dermatol       Date:  2011-12-08       Impact factor: 8.551

  7 in total
  1 in total

1.  [Rare diseases are common].

Authors:  C Has; K Giehl
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

  1 in total

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