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

Year 2007, Volume: 6 Issue: 2, 82 - 85, 01.08.2007

Abstract

Pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting skin, eyes, and the cardiovascular system. A 28-yearold female presented to the emergency unit with the complaint of gastrointestinal hemorrhage. Patient history revealed that she had been monitored in the gastroenterology clinic more than 10 times in the past 8 years, and had repetitive hemorrhage during her previous pregnancy. 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 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 as pseudoxanthoma elasticum, which was also confirmed on skin biopsy. Pseudoxanthoma elasticum is an uncommon hereditary disease. Early diagnosis of pseudoxanthoma elasticum cases is important to minimize systemic complications and to inform the other family members through genetic counseling.

References

  • Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol 2004; 51: 13–14.
  • Ringpfeil F, Lebwohl MG, Christiano AM, et al. Pseudoxanthoma elasticum: mutations in the gene encoding a transmembrane ATP- binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 2000; 97: 6001–6.
  • Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000; 25: 228-31.
  • Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxant- homa elasticum. Exp Dermatol 2001; 10: 221-8.
  • Plomp AS, Hu X, de Jong PT, et al. Does autosomal dominant pse- udoxanthoma elasticum exist? Am J Med Genet 2004; 126: 403-12.
  • Chassaing N, Martin L, Mazereeuw J, et al. Novel ABCC6 mutati- ons in pseudoxanthoma elasticum. J Invest Dermatol 2004; 122: 608-13.
  • Hacker SM, Ramos-Caro FA, Beers BB, et al. Juvenile pseudoxant- homa elasticum: recognition and management. Pediatr Dermatol 1993; 10: 19-25.
  • Shi Y, Terry SF, Terry PF, et al. Development of a rapid, reliable genetic test for pseudoxanthoma elasticum. J Mol Diagn 2007 Feb; 9: 105-12.
  • Secrétan M, Zografos L, Guggisberg D, et al. Chorioretinal vascu- lar abnormalities associated with angioid streaks and pseudoxant- homa elasticum. Arch Ophthalmol 1998; 116: 1333-6.
  • Contri MB, Boraldi F, Taparelli F, et al. Matrix proteins with high affinity for calcium ions are associated with mineralization within elastic fibers of pseudoxanthoma elasticum dermis. Am J Pathol 1996; 148: 596-77.
  • Li T-H, Tseng C-R, Hsiao G-H, et al. An unusual cutaneous mani- festation of pseudoxanthoma elasticum mimicking reticulate pig- mentary disorders. Br J Dermatol 1996; 134: 1157-9.
  • Uenishi T, Uchiyama M, Sugiura H, et al. Pseudoxanthoma elasti- cum with generalized cutaneous laxity. Arch Dermatol 1997; 133: 664-6.
  • Lebwohl M, Phelps RG, Yannuzzi L, et al. Diagnosis of pseudoxant- homa elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med 1987; 317: 347-50.
  • Schachner L, Young D. Pseudoxanthoma elasticum with severe car- diovascular disease in a child. Am J Dis Child 1974; 127: 571-5.
  • Rosenzweig BP, Guarneri E, Kronzon I. Echocardiographic mani- festations in a patient with pseudoxanthoma elasticum. Ann Intern Med 1993; 119: 487–91.
  • Uitto J, Pulkkinen L, Ringpfeil F. Molecular Genetics of Pseudo- xanthoma Elasticum: Metabolic Disorder at the Environment-Geno- me Interface? Trends Mol Med 2001: 7: 1317.
  • Luft FC. Pseudoxanthoma Elasticum Revealed. J Mol Med 2000: 78: 237-8.
  • Buka R, Wei H, Sapadin A. et al. Pseudoxanthoma Elasticum and Calcinosis Cutis. J Am Acad Dermatol 2000: 43: 312-315
  • Fogelman JP. Pseudoxanthoma elasticum. Dermatology Online Journal 2001: 7: 16.

Psödoksantoma Elastikum, hamile bir kadında tekrarlayan üst gastrointestinal kanama nedeni

Year 2007, Volume: 6 Issue: 2, 82 - 85, 01.08.2007

Abstract

Psödoksantoma elastikum nadir görülen; herediter, deri, göz, kardiovasküler sistemi etkiliyen bir multisistem hastalığıdır. Olgumuz, 28 yaşında kadın hasta, üst gastrointestinal sistem kanaması şikayeti ile acil servise müracaat etti. Son 8 yılda on defadan fazla hematemezmelena şikayetleri ile gastroententeroloji kliniğinde takip edilmiş olan hasta, öyküsünde daha önceki gebeliğinde tekrar kanaması olduğunu ifade etmekteydi. Hastanın yapılan sistemik muayenesinde, gözde retina pigment epitelinde atrofi, fundusta angioid streaklar ve tipik peau d'orange bulgusu, OCT'de (optic coherans tomografi) retina sinir lifi tabakasında incelme, boyun derisinde bilateral, retiküler tarzda sarımsı renkli, düz papüler lezyonlar (plucked chicken appearance), fundusda kanama odaklarının olması ve böbreklerde nefrokalsinozis ile psödoksantoma elastikum tanısı aldı. Cilt biyopsisinde psödoksantoma elastikum saptandı. Psödoksantoma elastikum, nadir görülen ve genetik geçiş gösteren sistemik bir hastalıktır. Psödoksantoma elastikum olgularına erken tanı konması, sistemik komplikasyonlarını erken tanımak ve yaşayan diğer aile bireylerinin genetik danışma alması açısından önemlidir.

References

  • Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol 2004; 51: 13–14.
  • Ringpfeil F, Lebwohl MG, Christiano AM, et al. Pseudoxanthoma elasticum: mutations in the gene encoding a transmembrane ATP- binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 2000; 97: 6001–6.
  • Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000; 25: 228-31.
  • Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxant- homa elasticum. Exp Dermatol 2001; 10: 221-8.
  • Plomp AS, Hu X, de Jong PT, et al. Does autosomal dominant pse- udoxanthoma elasticum exist? Am J Med Genet 2004; 126: 403-12.
  • Chassaing N, Martin L, Mazereeuw J, et al. Novel ABCC6 mutati- ons in pseudoxanthoma elasticum. J Invest Dermatol 2004; 122: 608-13.
  • Hacker SM, Ramos-Caro FA, Beers BB, et al. Juvenile pseudoxant- homa elasticum: recognition and management. Pediatr Dermatol 1993; 10: 19-25.
  • Shi Y, Terry SF, Terry PF, et al. Development of a rapid, reliable genetic test for pseudoxanthoma elasticum. J Mol Diagn 2007 Feb; 9: 105-12.
  • Secrétan M, Zografos L, Guggisberg D, et al. Chorioretinal vascu- lar abnormalities associated with angioid streaks and pseudoxant- homa elasticum. Arch Ophthalmol 1998; 116: 1333-6.
  • Contri MB, Boraldi F, Taparelli F, et al. Matrix proteins with high affinity for calcium ions are associated with mineralization within elastic fibers of pseudoxanthoma elasticum dermis. Am J Pathol 1996; 148: 596-77.
  • Li T-H, Tseng C-R, Hsiao G-H, et al. An unusual cutaneous mani- festation of pseudoxanthoma elasticum mimicking reticulate pig- mentary disorders. Br J Dermatol 1996; 134: 1157-9.
  • Uenishi T, Uchiyama M, Sugiura H, et al. Pseudoxanthoma elasti- cum with generalized cutaneous laxity. Arch Dermatol 1997; 133: 664-6.
  • Lebwohl M, Phelps RG, Yannuzzi L, et al. Diagnosis of pseudoxant- homa elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med 1987; 317: 347-50.
  • Schachner L, Young D. Pseudoxanthoma elasticum with severe car- diovascular disease in a child. Am J Dis Child 1974; 127: 571-5.
  • Rosenzweig BP, Guarneri E, Kronzon I. Echocardiographic mani- festations in a patient with pseudoxanthoma elasticum. Ann Intern Med 1993; 119: 487–91.
  • Uitto J, Pulkkinen L, Ringpfeil F. Molecular Genetics of Pseudo- xanthoma Elasticum: Metabolic Disorder at the Environment-Geno- me Interface? Trends Mol Med 2001: 7: 1317.
  • Luft FC. Pseudoxanthoma Elasticum Revealed. J Mol Med 2000: 78: 237-8.
  • Buka R, Wei H, Sapadin A. et al. Pseudoxanthoma Elasticum and Calcinosis Cutis. J Am Acad Dermatol 2000: 43: 312-315
  • Fogelman JP. Pseudoxanthoma elasticum. Dermatology Online Journal 2001: 7: 16.
There are 19 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Vedat Göral This is me

Doğan Demir This is me

Yekta Tüzün This is me

Uğur Keklikçi This is me

Hüseyin Büyübayram This is me

Kadim Bayan This is me

Aşur Uyar This is me

Publication Date August 1, 2007
Published in Issue Year 2007 Volume: 6 Issue: 2

Cite

APA Göral, V., Demir, D., Tüzün, Y., Keklikçi, U., et al. (2007). Psödoksantoma Elastikum, hamile bir kadında tekrarlayan üst gastrointestinal kanama nedeni. Akademik Gastroenteroloji Dergisi, 6(2), 82-85.

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