Literature DB >> 16780467

Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.

Neerja Gupta, Shubha R Phadke.   

Abstract

Cutis laxa is a heterogeneous group of disorders with variable phenotypes and inheritance patterns. Type II cutis laxa has features overlapping with wrinkly skin syndrome, as a result of which they are regarded as one disorder with a variable spectrum of severity by some authors. To overcome this existing confusion, we present three patients with cutis laxa type II and review the literature to highlight the important differentiating features between cutis laxa type II and wrinkly skin syndrome.

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Year:  2006        PMID: 16780467     DOI: 10.1111/j.1525-1470.2006.00222.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  3 in total

1.  Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Authors:  Duane L Guernsey; Haiyan Jiang; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Mathew Nightingale; Andrea L Rideout; Sylvie Provost; Karen Bedard; Andrew Orr; Marie-Pierre Dubé; Mark Ludman; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025

Review 2.  Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

Authors:  E A Anum; L D Hill; A Pandya; J F Strauss
Journal:  Placenta       Date:  2009-01-18       Impact factor: 3.481

3.  The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Authors:  Manisha Goyal; Ankur Singh; Uwe Kornak; Seema Kapoor
Journal:  Indian J Dermatol       Date:  2015 Sep-Oct       Impact factor: 1.494

  3 in total

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