Literature DB >> 8993971

Meleda disease: report of two cases investigated by electron microscopy.

E Frenk1, D Guggisberg, B Mevorah, D Hohl.   

Abstract

We report 2 cases of clinically typical Meleda disease in a family from Herzegovina. Electron microscopy did not reveal major ultrastructural anomalies of keratinization; however, the transition from stratum granulosum to stratum corneum appeared to occur less abruptly than normally by a stepwise process suggesting a slowing down of terminal cornification.

Mesh：

Year:  1996        PMID： 8993971     DOI： 10.1159/000246295

Source DB:  PubMed          Journal:  Dermatology        ISSN： 1018-8665            Impact factor:   5.366


  4 in total

Review 1.  Mendelian diseases and conditions in Croatian island populations: historic records and new insights.

Authors:  Vanja Saftić; Diana Rudan; Lina Zgaga
Journal:  Croat Med J       Date:  2006-08       Impact factor: 1.351

2.  Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.

Authors:  Cherine Charfeddine; Mourad Mokni; Selma Kassar; Hela Zribi; Chiraz Bouchlaka; Samir Boubaker; Ahmed Rebai; Amel Ben Osman; Sonia Abdelhak
Journal:  J Hum Genet       Date:  2006-07-25       Impact factor: 3.172

3.  Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

Authors:  Mbarka Bchetnia; Ahlem Merdassi; Cherine Charfeddine; Fatma Mgaieth; Selma Kassar; Farah Ouechtati; Ibtissem Chouchene; Hamouda Boussen; Mourad Mokni; Amel Dhahri-Ben Osman; Med Samir Boubaker; Sonia Abdelhak; Leila Elmatri
Journal:  J Med Case Rep       Date:  2010-04-20

4.  Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.

Authors:  Mbarka Bchetnia; Nadia Laroussi; Monia Youssef; Cherine Charfeddine; Ahlem Sabrine Ben Brick; Mohamed Samir Boubaker; Mourad Mokni; Sonia Abdelhak; Jameleddine Zili; Rym Benmously
Journal:  Biomed Res Int       Date:  2013-09-04       Impact factor: 3.411
  4 in total

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