Literature DB >> 22387031

Cutis laxa: a review.

David R Berk1, Danette D Bentley, Susan J Bayliss, Anne Lind, Zsolt Urban.   

Abstract

Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have significant systemic manifestations. Here, we review the various forms of cutis laxa, with focus on the inherited forms. Recent molecular studies have provided many new insights into the causes of cutis laxa and revealed greater genetic heterogeneity than previously appreciated.
Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

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Year:  2012        PMID: 22387031     DOI: 10.1016/j.jaad.2011.01.004

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  46 in total

1.  A novel elastin gene mutation in a Vietnamese patient with cutis laxa.

Authors:  Mark L Siefring; Elizabeth C Lawrence; Tom C Nguyen; Doanh Lu; Giang Pham; Christa Lorenchick; Kara L Levine; Zsolt Urban
Journal:  Pediatr Dermatol       Date:  2014 May-Jun       Impact factor: 1.588

2.  Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B.

Authors:  Vasanthan Tanigasalam; Sushil Gupta
Journal:  Indian J Pediatr       Date:  2019-05-04       Impact factor: 1.967

Review 3.  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

Review 4.  The role of elastic fibers in pathogenesis of conjunctivochalasis.

Authors:  Jing-Yun Gan; Qing-Song Li; Zhen-Yong Zhang; Wei Zhang; Xing-Ru Zhang
Journal:  Int J Ophthalmol       Date:  2017-09-18       Impact factor: 1.779

5.  Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Authors:  Thatjana Gardeitchik; Miski Mohamed; Benedetta Ruzzenente; Daniela Karall; Sergio Guerrero-Castillo; Daisy Dalloyaux; Mariël van den Brand; Sanne van Kraaij; Ellyze van Asbeck; Zahra Assouline; Marlene Rio; Pascale de Lonlay; Sabine Scholl-Buergi; David F G J Wolthuis; Alexander Hoischen; Richard J Rodenburg; Wolfgang Sperl; Zsolt Urban; Ulrich Brandt; Johannes A Mayr; Sunnie Wong; Arjan P M de Brouwer; Leo Nijtmans; Arnold Munnich; Agnès Rötig; Ron A Wevers; Metodi D Metodiev; Eva Morava
Journal:  Am J Hum Genet       Date:  2018-03-22       Impact factor: 11.025

Review 6.  Elastic fibers in orthopedics: Form and function in tendons and ligaments, clinical implications, and future directions.

Authors:  Jeffrey Ryan Hill; Jeremy D Eekhoff; Robert H Brophy; Spencer P Lake
Journal:  J Orthop Res       Date:  2020-04-28       Impact factor: 3.494

7.  Images in COPD: Idiopathic Emphysema in a Never Smoker.

Authors:  Stephan S Leung; Patrick Lee; Jessica E Most; Baskaran Sundaram
Journal:  Chronic Obstr Pulm Dis       Date:  2020-04

8.  Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.

Authors:  S Hoffjan
Journal:  Mol Syndromol       Date:  2012-06-12

Review 9.  Skin manifestations in CDG.

Authors:  D Rymen; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2014-02-20       Impact factor: 4.982

10.  Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Authors:  Thatjana Gardeitchik; Miski Mohamed; Björn Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki-Joong Kim; Bing C Lim; Johannes Häberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leão; Riikka Keski-Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; Uwe Kornak; Eva Morava
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246

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