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Epidermolizis Bülloza ve Pylor Atrezisi

Year 2023, Volume: 1 Issue: 1, 16 - 18, 17.04.2023

Abstract

Epidermolysis bullosa, genellikle otozomal dominant veya resesif genetik geçişli bir sendrom olmakla birlikte; daha az oranda sporadik vakalar halinde de görülebilir. Özellikle aile anamnezi bilinmeyen vakalarda; gestasyonel dönemde epidermolysis bullosa tanısı koymak oldukça güçtür. Gestasyonel dönemde ultrasonografide; gastrik dilatasyon, polyhidroamnios ve amniotik sıvıda ekojenite görülmesi halinde epidermolysis bullosa sendromunun varlığını düşünmek gecikmiş tanıları önleyebilir . Epidermolysis bullosa sendromu şüphesinde; fetüste karyotipleme yapılması, maternal serumda alpafetoprotein seviyesinin ölçülmesi ve amniotik sıvıda asetilkolinesteraz bakılması tanıda yardımcı olabilir. Bizim vakamızda, gestasyonel 32. Gebelik haftasında gastrik dilatasyon ve polihidroamnios varlığı saptadık ve aile anamnezi olmayan olgumuzda epidermolysis büllosa sendromu varlığından şüphelendik. Bu vaka sunumumuzda; 32. gestasyonel haftada yapılan ultrasonografi ile gastrik dilatasyon ve polihidroamnios saptanıp ve epidermolizis büllosa tanısından şüphelenilen hastanın neonatal dönemdeki tanısını ve hastalığın prognozunu bildirmeyi hedefledik.

References

  • 1- Lanschuetzer CM. Classification and molecular basis of hereditary epidermolizis bullosa. In: Fine JD, Hintner H, editors. Life with Epidermolizis Bullosa (EB). Austria: Springer Wien-New York; 2009.
  • 2- Fine JD, Eady RA et all. The classification of inherited epidermolizis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931-50.
  • 3- Fine JD, Johnson LB et all. Gastrointestinal complications of inherited epidermolizis bullosa: cumulative experience of the National Epidermolizis Bollosa Registry. J Pediatr Gastroenterol Nutr 2008;46(2):147-58.
  • 4- Fine JD, Eady RA et all. The classification of inherited epidermolizis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008;58(6):931-50.
  • 5- Yiasemides E, Walton J et all. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolizis bullosa. Am J Dermatopathol. 2006;28:387-94.
  • 6- Ardaens Y. Pathologie de la paroi et du contenu abdominal. In Echographie en pratique obst´etricale, Robert Y, Gu´erin du Masgenˆet B, Ardaens Y (eds). Masson: Paris, 2000; 269–284.
  • 7- Okoye BO, Parikh DH et all. Pyloric atresia: five new cases, a new association, and a review of the literatüre withguidelines. J Pediatr Surg 2000; 35: 1242–1245.
  • 8- Petrikovsky B, Schneider EP et all. Clinical significance of echogenic amniotic fluid. J Clin Ultrasound 1998;26: 191–193.
  • 9- Konefał H, Gawrych E et all.(Congenital epidermolizis bullosa--a case report). Ginekol Pol. 2012 Oct;83(10):792-4.
  • 10- Nakano A, Pulkkinen L et all. Epidermolizis bullosa with congenital pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res 2001; 49: 618–626.
  • 11- Koss-Harnes D, Høyheim B et all. A site-specific plectin mutation causes dominant epidermolizis bullosa simplex ogna: two identical de novo mutations. J Invest Dermatol. 2002;118:87-93.
  • 12- Pfendner Ellen G, Lucky Anne W. Epidermolizis bullosa with pyloric atresia. In: Gene Reviews. Initial Posting: August 21, 2006. Last Update: October 4, 2007.
  • 13- Pfendner EG, Lucky AW. Dystrophic Epidermolizis Bullosa. In: GeneReviews. Initial Posting: August 21,2006.: October 4, 2007.
Year 2023, Volume: 1 Issue: 1, 16 - 18, 17.04.2023

Abstract

References

  • 1- Lanschuetzer CM. Classification and molecular basis of hereditary epidermolizis bullosa. In: Fine JD, Hintner H, editors. Life with Epidermolizis Bullosa (EB). Austria: Springer Wien-New York; 2009.
  • 2- Fine JD, Eady RA et all. The classification of inherited epidermolizis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931-50.
  • 3- Fine JD, Johnson LB et all. Gastrointestinal complications of inherited epidermolizis bullosa: cumulative experience of the National Epidermolizis Bollosa Registry. J Pediatr Gastroenterol Nutr 2008;46(2):147-58.
  • 4- Fine JD, Eady RA et all. The classification of inherited epidermolizis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008;58(6):931-50.
  • 5- Yiasemides E, Walton J et all. A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolizis bullosa. Am J Dermatopathol. 2006;28:387-94.
  • 6- Ardaens Y. Pathologie de la paroi et du contenu abdominal. In Echographie en pratique obst´etricale, Robert Y, Gu´erin du Masgenˆet B, Ardaens Y (eds). Masson: Paris, 2000; 269–284.
  • 7- Okoye BO, Parikh DH et all. Pyloric atresia: five new cases, a new association, and a review of the literatüre withguidelines. J Pediatr Surg 2000; 35: 1242–1245.
  • 8- Petrikovsky B, Schneider EP et all. Clinical significance of echogenic amniotic fluid. J Clin Ultrasound 1998;26: 191–193.
  • 9- Konefał H, Gawrych E et all.(Congenital epidermolizis bullosa--a case report). Ginekol Pol. 2012 Oct;83(10):792-4.
  • 10- Nakano A, Pulkkinen L et all. Epidermolizis bullosa with congenital pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res 2001; 49: 618–626.
  • 11- Koss-Harnes D, Høyheim B et all. A site-specific plectin mutation causes dominant epidermolizis bullosa simplex ogna: two identical de novo mutations. J Invest Dermatol. 2002;118:87-93.
  • 12- Pfendner Ellen G, Lucky Anne W. Epidermolizis bullosa with pyloric atresia. In: Gene Reviews. Initial Posting: August 21, 2006. Last Update: October 4, 2007.
  • 13- Pfendner EG, Lucky AW. Dystrophic Epidermolizis Bullosa. In: GeneReviews. Initial Posting: August 21,2006.: October 4, 2007.
There are 13 citations in total.

Details

Primary Language Turkish
Subjects Clinical Sciences
Journal Section Olgu Sunumu
Authors

Şenol Şentürk

Gülşah Balık This is me

Figen Kır Şahin This is me

Mehmet Kağıtçı

Publication Date April 17, 2023
Published in Issue Year 2023 Volume: 1 Issue: 1

Cite

Vancouver Şentürk Ş, Balık G, Kır Şahin F, Kağıtçı M. Epidermolizis Bülloza ve Pylor Atrezisi. RMJ. 2023;1(1):16-8.

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