Literature DB >> 17657851

Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman.

Vedat Goral1, Dogan Demir, Yekta Tuzun, Ugur Keklikci, Huseyin Buyukbayram, Kadim Bayan, Asur Uyar.   

Abstract

Pseudoxantoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. A twenty-eight-year-old female has presented to emergency unit with the complaint of gastrointestinal hemorrhage. This patient, who had been monitored in the gastroenterology clinic more than 10 times in the past 8 years, noted a repetitive hemorrhage during her previous pregnancy in her history. The examination of the patient revealed the following signs and symptoms: atrophy in the epithelium of the retina pigment; typical angioid streaks and peau d'orange finding in the fundus; thinning of the retinal nerve fiber in OCT (optic coherence tomography); bilateral and reticular papillary lesions with yellowish-color in the neck region (plucked chicken appearance); presence of bleeding foci in fundus; and nephrocalcinosis in kidneys. In light of these symptoms, the patient was diagnosed with pseudoxantoma elasticum. Skin biopsy confirmed the pseudoxantoma elasticum diagnose. PXE is an uncommon, hereditary disease. Early diagnosis of pseudoxantoma elasticum cases, is important for minimalizing systemic complications and informing the other family members through genetic counseling.

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Year:  2007        PMID: 17657851      PMCID: PMC4611229          DOI: 10.3748/wjg.v13.i28.3897

Source DB:  PubMed          Journal:  World J Gastroenterol        ISSN: 1007-9327            Impact factor:   5.742


  18 in total

Review 1.  Pseudoxanthoma elasticum revealed.

Authors:  F C Luft
Journal:  J Mol Med (Berl)       Date:  2000       Impact factor: 4.599

2.  Mutations in ABCC6 cause pseudoxanthoma elasticum.

Authors:  A A Bergen; A S Plomp; E J Schuurman; S Terry; M Breuning; H Dauwerse; J Swart; M Kool; S van Soest; F Baas; J B ten Brink; P T de Jong
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

3.  Novel ABCC6 mutations in pseudoxanthoma elasticum.

Authors:  Nicolas Chassaing; Ludovic Martin; Juliette Mazereeuw; Laurence Barrié; Sonia Nizard; Jean-Louis Bonafé; Patrick Calvas; Alain Hovnanian
Journal:  J Invest Dermatol       Date:  2004-03       Impact factor: 8.551

4.  An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders.

Authors:  T H Li; C R Tseng; G H Hsiao; H C Chiu
Journal:  Br J Dermatol       Date:  1996-06       Impact factor: 9.302

5.  Pseudoxanthoma elasticum with generalized cutaneous laxity.

Authors:  T Uenishi; M Uchiyama; H Sugiura; K Danno
Journal:  Arch Dermatol       Date:  1997-05

6.  Pseudoxanthoma elasticum and calcinosis cutis.

Authors:  R Buka; H Wei; A Sapadin; J Mauch; M Lebwohl; D Rudikoff
Journal:  J Am Acad Dermatol       Date:  2000-08       Impact factor: 11.527

7.  Echocardiographic manifestations in a patient with pseudoxanthoma elasticum.

Authors:  B P Rosenzweig; E Guarneri; I Kronzon
Journal:  Ann Intern Med       Date:  1993-09-15       Impact factor: 25.391

Review 8.  Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

Authors:  J Uitto; L Pulkkinen; F Ringpfeil
Journal:  Trends Mol Med       Date:  2001-01       Impact factor: 11.951

Review 9.  Does autosomal dominant pseudoxanthoma elasticum exist?

Authors:  Astrid S Plomp; Xiaofeng Hu; Paulus T V M de Jong; Arthur A B Bergen
Journal:  Am J Med Genet A       Date:  2004-05-01       Impact factor: 2.802

10.  Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis.

Authors:  M B Contri; F Boraldi; F Taparelli; A De Paepe; I P Ronchetti
Journal:  Am J Pathol       Date:  1996-02       Impact factor: 4.307

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  3 in total

1.  Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.

Authors:  Jouni Uitto; Qiaoli Li; Qiujie Jiang
Journal:  J Invest Dermatol       Date:  2009-12-24       Impact factor: 8.551

2.  PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.

Authors:  Jouni Uitto; Qiujie Jiang; András Váradi; Lionel G Bercovitch; Sharon F Terry
Journal:  Expert Opin Orphan Drugs       Date:  2014-06-01       Impact factor: 0.694

Review 3.  Pseudoxanthoma elasticum.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2017-05-10       Impact factor: 4.123

  3 in total

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