Literature DB >> 22759387

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

Björn Knaudt1, Thomas Volz, Markus Krug, Walter Burgdorf, Martin Röcken, Mark Berneburg.   

Abstract

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

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Year:  2012        PMID: 22759387     DOI: 10.1684/ejd.2012.1787

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  3 in total

1.  Quantitative proteomics of the human skin secretome reveal a reduction in immune defense mediators in ectodermal dysplasia patients.

Authors:  Marc Burian; Ana Velic; Katarina Matic; Stephanie Günther; Beatrice Kraft; Lena Gonser; Stephan Forchhammer; Yvonne Tiffert; Christian Naumer; Michael Krohn; Mark Berneburg; Amir S Yazdi; Boris Maček; Birgit Schittek
Journal:  J Invest Dermatol       Date:  2014-10-27       Impact factor: 8.551

2.  Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

Authors:  Deepak Sharma; Chetan Kumar; Sanjay Bhalerao; Aakash Pandita; Sweta Shastri; Pradeep Sharma
Journal:  Front Pediatr       Date:  2015-06-16       Impact factor: 3.418

3.  Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia.

Authors:  Wissal Abdelli; Asmahen Souissi; Fatima Alaoui; Wiem Sassi; Ines Chelly; Slim Haouat; Mourad Mokni
Journal:  Clin Case Rep       Date:  2022-03-13
  3 in total

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