Literature DB >> 21152794

Cutis laxa: case report.

Gisele Moro do Nascimento1, Caroline Sampaio Alves Nunes, Paula Fatuch Menegotto, Salmo Raskin, Nádia de Almeida.   

Abstract

Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family.

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Year:  2010        PMID: 21152794     DOI: 10.1590/s0365-05962010000500013

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  4 in total

Review 1.  The Genetics of Pneumothorax.

Authors:  Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby
Journal:  Am J Respir Crit Care Med       Date:  2019-06-01       Impact factor: 21.405

2.  Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Authors:  Bert Callewaert; Chi-Ting Su; Tim Van Damme; Philip Vlummens; Fransiska Malfait; Olivier Vanakker; Bianca Schulz; Meghan Mac Neal; Elaine C Davis; Joseph G H Lee; Aicha Salhi; Sheila Unger; Ketil Heimdal; Salome De Almeida; Uwe Kornak; Harald Gaspar; Jean-Luc Bresson; Katrina Prescott; Maria E Gosendi; Sahar Mansour; Gérald E Piérard; Suneeta Madan-Khetarpal; Frank C Sciurba; Sofie Symoens; Paul J Coucke; Lionel Van Maldergem; Zsolt Urban; Anne De Paepe
Journal:  Hum Mutat       Date:  2012-08-13       Impact factor: 4.878

3.  Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature.

Authors:  Waseem M Hajjar; Areej S Alrajeh; Lulwah S Alturki; Sami A Al-Nassar; Adnan W Hajjar
Journal:  Ann Thorac Med       Date:  2018 Oct-Dec       Impact factor: 2.219

4.  Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Authors:  Michaela Auer-Grumbach; Martin Weger; Regina Fink-Puches; Lea Papić; Eleonore Fröhlich; Piet Auer-Grumbach; Laila El Shabrawi-Caelen; Maria Schabhüttl; Christian Windpassinger; Jan Senderek; Herbert Budka; Slave Trajanoski; Andreas R Janecke; Anton Haas; Dieter Metze; Thomas R Pieber; Christian Guelly
Journal:  Brain       Date:  2011-05-15       Impact factor: 13.501

  4 in total

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