Literature DB >> 19533072

[Kindler syndrome. A new bullous dermatosis].

C Has1.   

Abstract

The Kindler syndrome is a new form of inherited epidermolysis bullosa and the first genodermatosis caused by a defect of the focal adhesions. Kindlin-1, the deficient protein, plays an essential role in integrin activation and in the adhesion of keratinocytes to the extracellular matrix. The adhesion defect leads to skin blistering which begins at birth and ameliorates with age, and to mucosal fragility which leads to scarring and stricture formation. Skin atrophy and poikiloderma develop progressively. Photosensitivity is rather mild, but squamous cell carcinomas develop on sun-exposed areas mainly after the age of 40 years. The most important differential diagnoses are epidermolysis bullosa with mottled pigmentation and dystrophic epidermolysis bullosa. Management aims to treat the symptoms and prevent complications.

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Year:  2009        PMID: 19533072     DOI: 10.1007/s00105-008-1676-y

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


  14 in total

1.  Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.

Authors:  A Tülin Mansur; Nursel H Elcioglu; Ikbal E Aydingöz; A Deniz Akkaya; Zehra Asiran Serdar; Corinna Herz; Leena Bruckner-Tuderman; Cristina Has
Journal:  Acta Derm Venereol       Date:  2007       Impact factor: 4.437

2.  The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Authors:  Jo-David Fine; Robin A J Eady; Eugene A Bauer; Johann W Bauer; Leena Bruckner-Tuderman; Adrian Heagerty; Helmut Hintner; Alain Hovnanian; Marcel F Jonkman; Irene Leigh; John A McGrath; Jemima E Mellerio; Dedee F Murrell; Hiroshi Shimizu; Jouni Uitto; Anders Vahlquist; David Woodley; Giovanna Zambruno
Journal:  J Am Acad Dermatol       Date:  2008-04-18       Impact factor: 11.527

3.  The Kindlins: subcellular localization and expression during murine development.

Authors:  Siegfried Ussar; Hao-Ven Wang; Stefan Linder; Reinhard Fässler; Markus Moser
Journal:  Exp Cell Res       Date:  2006-06-29       Impact factor: 3.905

4.  Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes.

Authors:  Corinna Herz; Monique Aumailley; Carsten Schulte; Ursula Schlötzer-Schrehardt; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Biol Chem       Date:  2006-10-01       Impact factor: 5.157

5.  Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Authors:  Florence Jobard; Bakar Bouadjar; Frédéric Caux; Smail Hadj-Rabia; Christina Has; Fumi Matsuda; Jean Weissenbach; Mark Lathrop; Jean-François Prud'homme; Judith Fischer
Journal:  Hum Mol Genet       Date:  2003-04-15       Impact factor: 6.150

6.  A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome.

Authors:  C Zhou; S Song; J Zhang
Journal:  Br J Dermatol       Date:  2009-03-09       Impact factor: 9.302

Review 7.  Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case.

Authors:  Colin B Wiebe; Giorgio Petricca; Lari Häkkinen; Guoqiao Jiang; Chuanyue Wu; Hannu S Larjava
Journal:  J Periodontol       Date:  2008-05       Impact factor: 6.993

8.  Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.

Authors:  J S Kern; C Herz; E Haan; D Moore; S Nottelmann; T von Lilien; P Greiner; A Schmitt-Graeff; O G Opitz; L Bruckner-Tuderman; C Has
Journal:  J Pathol       Date:  2007-12       Impact factor: 7.996

9.  Kindler syndrome in native Americans from Panama: report of 26 cases.

Authors:  Homero Penagos; Marta Jaen; Mario T Sancho; Manuel R Saborio; Victor G Fallas; Dawn H Siegel; Ilona J Frieden
Journal:  Arch Dermatol       Date:  2004-08

Review 10.  Kindler syndrome: a focal adhesion genodermatosis.

Authors:  J E Lai-Cheong; A Tanaka; G Hawche; P Emanuel; C Maari; M Taskesen; S Akdeniz; L Liu; J A McGrath
Journal:  Br J Dermatol       Date:  2008-12-11       Impact factor: 9.302

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