Outcome After Surgical Repair of Junctional Epidermolysis Bullosa–Pyloric Atresia Syndrome

Dank, Jan P.; Kim, Susan; Parisi, Melissa A.; Brown, Thomas W.; Smith, Lynne T.; Waldhausen, John H.T.; Sybert, Virginia P.

doi:10.1001/archderm.135.10.1243

Cited by 31 publications

(9 citation statements)

References 46 publications

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“…Different techniques have been used, usually pyloroplasty or pyloric reconstruction. 98,99 Protein-losing enteropathy (PLE) and diarrhea have been described in EB-PA, 45,100-102 and a 6 b 4 deficiency has been shown in an infant with total GI mucosal separation and intractable diarrhea without the skin phenotype, 103 underscoring the importance of this protein in normal GI integrity and function. PLE has also been reported recently in both JEB-nH and JEB-H patients.…”

Section: Epidermolysis Bullosa With Pyloric Atresiamentioning

confidence: 99%

“…120 Renal abnormalities have also been reported in conjunction with the EB-PA syndrome. 98,121 Little is known about the true frequency of renal insufficiency or failure in inherited EB. In a series of 100 consecutive RDEB-HS patients undergoing diagnostic electron microscopy at the University of Heidelberg between 1973 and 1988, two cases were identified: one a 10-year-old boy with crescentric glomerulonephritis and one a 17-year-old girl who developed nephrotic syndrome and after the postmortem examination was found to have amyloid within the kidneys, liver, and spleen, along with bilateral renal vein thrombosis.…”

Section: Epidermolysis Bullosa With Pyloric Atresiamentioning

confidence: 99%

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Extracutaneous manifestations and complications of inherited epidermolysis bullosa

Fine

Mellerio

2009

Journal of the American Academy of Dermatology

248

168

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Section: Epidermolysis Bullosa With Pyloric Atresiamentioning

confidence: 99%

Section: Epidermolysis Bullosa With Pyloric Atresiamentioning

confidence: 99%

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

Fine

Mellerio

2009

Journal of the American Academy of Dermatology

248

168

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“…Very few patients with limited and manageable skin blisters had long survival. As in our patient, most of the PA/EB infants die within the first few weeks or months of life despite successful surgical correction of PA. [3] Our cases developed aggravated skin lesions following minor trauma, and had severe sepsis induced by infected skin lesions of EB.…”

Section: Discussionmentioning

confidence: 65%

“…Ninety-one cases of this rare syndrome have been reported in the literature thus far. [3,4] We report here two additional cases of PA/EB and review the related literature. CASE REPORTS Case 1-A three-day-old female was admitted to the emergency department with nonbilious vomiting on her third day of life (33 weeks gestation, 2000 g, spontaneous vaginal delivery).…”

mentioning

confidence: 95%

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

Bıçakçı¹,

Tander²,

Çelik³

et al. 2012

Ulus Travma Acil Cerrahi Derg

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Pilorik atrezi (PA) ve epidermolizis bülloza (EB) birlikteliği genetik etyolojisi iyi bilinen fakat ender rastlanılan yenidoğanın acil cerrahi hastalığıdır. PA/EB, pilor atrezisi ile cilt ve mukozalardaki bülloz lezyonların beraberliği olarak tariflenir. Literatürde bugüne dek toplam 91 olgu bildirilmiş-tir. Bu yazıda iki yeni olgu sunuldu, literatür taraması yapıl-dı. Olgu 1: Üç günlük hasta safrasız kusma ve ekstremitelerde 2-3 cm çapında bülloz lezyonlarla başvurdu. Karın grafisinide sol üst kadranda hava-sıvı seviyesi vardı. Laparotomide pilor atrezisi saptanarak piloropilorostomi uygulandı. Sorunsuz taburcu edilen hasta iki ay EB'ye bağlı ağır sepsisten kaybedildi. Olgu 2: İki günlük hasta, boyunda, diz altında, ön yüzde, el sırtında ve sol dirsek üstünde yaygın cilt lezyonları mevcuttu. Karın grafisinde, dilate mide ve distalinde gaz yokluğu dikkati çekti. Pilor atrezisi ön tanısı ile ameliyat edilerek gastroduodenostomi uygulandı. Başlan-gıçta oral beslenmeyi iyi tolere eden hasta ameliyat sonrası 23'üncü cilt lezyonlarına bağlı ağır sepsis nedeniyle kaybedildi. PA/EB tanısı alan hastaların hemen hemen hepsi ilk birkaç yıl içinde kaybedilmektedir. EB'den kaynaklanan komplikasyonlar ölümlerin en yaygın nedenidir. Başarılı PA ameliyatlarından sonra bile, EB'ye bağlı cilt lezyonları, enfeksiyon ve metabolik problemlere yol açarak, ölümleri neredeyse kaçınılmaz hale getirmektedir.Anahtar Sözcükler: Epidermolizis bülloza; Carmi sendromu; pilor atrezisi.The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninetyone cases have been reported in the literature to date. We present two new cases and evaluate the association of PA/ EB, its etiopathogenesis and the clinical properties. Case 1: A three-day-old female presented with nonbilious vomiting and bullous lesions 2-3 cm in diameter on the extremities. Abdominal X-ray showed a single air-fluid level in the left upper quadrant. At laparotomy, we found PA and performed a pyloro-pylorostomy. The patient died due to sepsis complication of EB two months after surgery. Case 2: A two-day-old male presented with severe dermal bullous lesions on the trunk, neck and extremities. His stomach was dilated and there was no gas distally. We found PA and performed gastroduodenostomy. Initially, he tolerated the feeding well, but he died due to severe sepsis on the postoperative 23rd day. Almost all neonates born with the PA/EB result in a fatal outcome in the first few years. The complications related to EB are usually the cause of death. Even after successful repair of PA, skin lesions lead to death due to infection.

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“…A review of 51 patients who underwent surgical procedures (among 73 patients with EB with pyloric atresia) reported an average survival time of only 70 days, despite surgical correction11. Some patients experienced a longer survival time of around 4 years, but these patients had extended cutaneous symptoms and extracutaneous complications affecting the urologic system and growth.…”

Section: Discussionmentioning

confidence: 99%

Case of Epidermolysis Bullosa with Pyloric Atresia

et al. 2011

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Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia. We report here on a case of concomitant occurrence of EB and pyloric atresia, a rare form of EB.

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Outcome After Surgical Repair of Junctional Epidermolysis Bullosa–Pyloric Atresia Syndrome

Cited by 31 publications

References 46 publications

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

Case of Epidermolysis Bullosa with Pyloric Atresia

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