Literature DB >> 25184925

Pseudoxanthoma elasticum: report of two cases.

Gabriela Franco Marques, Sadamitsu Nakandakari, Ana Paula Cota Pinto Coelho, Maria Helena Mazzi Freire Nigro, Josmar Sabage.   

Abstract

Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.

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Year:  2014        PMID: 25184925      PMCID: PMC4155964          DOI: 10.1590/abd1806-4841.20143144

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


  10 in total

1.  Periumbilical and periareolar perforating pseudoxanthoma elasticum.

Authors:  Aline Lopes Bressan; Bárbara Nader Vasconcelos; Roberto Souto da Silva; Maria de Fátima G Scotelaro Alves; Alexandre Carlos Gripp
Journal:  An Bras Dermatol       Date:  2010 Sep-Oct       Impact factor: 1.896

Review 2.  Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.

Authors:  Robert P Finger; Peter Charbel Issa; Markus S Ladewig; Christian Götting; Christina Szliska; Hendrik P N Scholl; Frank G Holz
Journal:  Surv Ophthalmol       Date:  2009 Mar-Apr       Impact factor: 6.048

3.  Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.

Authors:  Q Li; L Török; L Kocsis; J Uitto
Journal:  Br J Dermatol       Date:  2010-05-11       Impact factor: 9.302

Review 4.  Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Authors:  N Chassaing; L Martin; P Calvas; M Le Bert; A Hovnanian
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

5.  Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?

Authors:  Jennifer LaRusso; Qiaoli Li; Jouni Uitto
Journal:  J Dtsch Dermatol Ges       Date:  2011-03-16       Impact factor: 5.584

6.  Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum.

Authors:  Thomas K M Lee; Farzin Forooghian; Catherine Cukras; Wai T Wong; Emily Y Chew; Catherine B Meyerle
Journal:  Int Ophthalmol       Date:  2008-10-15       Impact factor: 2.031

Review 7.  Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.

Authors:  Qiaoli Li; Qiujie Jiang; Ellen Pfendner; András Váradi; Jouni Uitto
Journal:  Exp Dermatol       Date:  2008-10-22       Impact factor: 3.960

8.  Pseudoxanthoma elasticum is a metabolic disease.

Authors:  Qiujie Jiang; Masayuki Endo; Florian Dibra; Krystle Wang; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2008-08-14       Impact factor: 8.551

9.  [Pseudoxanthoma elasticum. More than a skin problem].

Authors:  S A Braun; D Finis; D Helbig
Journal:  Hautarzt       Date:  2013-04       Impact factor: 0.751

10.  Surgical correction of pseudoxanthoma elasticum.

Authors:  Manjot Marwah; Kiran Godse; Sharmila Patil; Nitin Nadkarni; Manjyot Gautam
Journal:  J Cutan Aesthet Surg       Date:  2012-07
  10 in total
  3 in total

1.  Ultrastructural aspects of pseudoxanthoma elasticum.

Authors:  Hiram Larangeira de Almeida; Mariana Geber de Almeida; Valéria Magalhães Jorge; Luciana Boff de Abreu
Journal:  An Bras Dermatol       Date:  2017 Jul-Aug       Impact factor: 1.896

2.  Pseudoxanthoma Elasticum: Report of Two Cases.

Authors:  Israel Antonio Esquivel-Pinto; Maria Elisa Vega-Memije; Araceli Alvarado-Delgadillo; Andres Eduardo Campuzano-Garcia; Amairani Manríquez-Robles
Journal:  Case Rep Dermatol       Date:  2021-04-19

3.  Pseudoxanthoma elasticum as a diagnostic challenge for pathologists: A rare case report.

Authors:  Namita Bhutani; Akhil Nadesan
Journal:  Ann Med Surg (Lond)       Date:  2022-04-03
  3 in total

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