Literature DB >> 1907230

Cutis laxa: autosomal dominant inheritance in five generations.

A Damkier1, F Brandrup, H Starklint.   

Abstract

Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance.

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Year:  1991        PMID: 1907230     DOI: 10.1111/j.1399-0004.1991.tb03038.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

1.  Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Authors:  Ganka Nikolova; Hane Lee; Suzanne Berkovitz; Stanley Nelson; Janet Sinsheimer; Eric Vilain; Larissa V Rodríguez
Journal:  Hum Genet       Date:  2006-10-05       Impact factor: 4.132

Review 2.  Elastin in large artery stiffness and hypertension.

Authors:  Jessica E Wagenseil; Robert P Mecham
Journal:  J Cardiovasc Transl Res       Date:  2012-06       Impact factor: 4.132

3.  Association of cutis laxa and genital prolapse: a case report.

Authors:  Dario Paladini; Attilio Di Spiezio Sardo; Vincenzo Dario Mandato; Germano Guerra; Giuseppe Bifulco; Silvana Mauriello; Carmine Nappi
Journal:  Int Urogynecol J Pelvic Floor Dysfunct       Date:  2007-04-24

4.  Fibrillin-1 in incisional hernias: an immunohistochemical study in scar and non-scar regions of human skin and muscle fasciae.

Authors:  Martin Fricke; Claus Langer; Edgar Brunner; Lynn Y Sakai; Laszlo Füzesi; Dieter P Reinhardt; Fabio Quondamatteo
Journal:  J Anat       Date:  2008-04-10       Impact factor: 2.610

5.  Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.

Authors:  Hideki Sugitani; Eiichi Hirano; Russell H Knutsen; Adrian Shifren; Jessica E Wagenseil; Christopher Ciliberto; Beth A Kozel; Zsolt Urban; Elaine C Davis; Thomas J Broekelmann; Robert P Mecham
Journal:  J Biol Chem       Date:  2012-05-09       Impact factor: 5.157

6.  Cutis laxa presenting as recurrent ileus.

Authors:  Shishira Bharadwaj; Prakash Shrestha; Tushar D Gohel; Maninder Singh
Journal:  Gastroenterol Rep (Oxf)       Date:  2014-07-09
  6 in total

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