Case of Epidermolysis Bullosa with Pyloric Atresia

Kim, Jae Hong; Park, Hwa Young; Lee, Hae Jin; Eom, Minseob; Choi, Eung Ho

doi:10.5021/ad.2011.23.s1.s41

Cited by 15 publications

(18 citation statements)

References 9 publications

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“…1,6 The results are usually good with the surgical treatment for simple PA. 6 PA-EB prognosis is, however, poor with lethal outcome in the majority of cases because of the complications of malnutrition and/or infection. [6][7][8] This is the first report of successful management of PA in general and, in particular, of PA-EB using laparoscopic repair. We postulate that early restoration of intestinal continuity and the use of a minimally invasive approach for PA in an EB patient who also has massive metabolic needs from her EB wounds may have an advantage over the open laparotomy.…”

Section: Discussionmentioning

confidence: 90%

“…[2][3][4][5][6] The standard treatment for PA is surgical repair by laparotomy. 3,[6][7][8][9] For PA associated with EB, the surgical mortality has been reported to be greater than 50%. 6,8 We present the first case report of a patient with PA associated with EB who was successfully treated by laparoscopic surgery and provide our recommendations for the management of PA/EB patients.…”

Section: Introductionmentioning

confidence: 99%

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Laparoscopic Management of Pyloric Atresia in a Neonate with Epidermolysis Bullosa

Son

Hoan

2013

Journal of Laparoendoscopic & Advanced Surgical Techniques

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Pyloric atresia (PA) is rare and may be associated with epidermolysis bullosa (EB). This is the first case report of a successful laparoscopic treatment of PA in a full-term 7-day-old neonate with EB. The laparoscopic approach consists of a longitudinal pyloromyotomy and excision of the thick obstructing pyloric membrane with a Heineke-Mickulicz pyloroplasty closure. Oral feeding was resumed at postoperative Day 7, and the child was discharged 5 days later with satisfactory follow-up at 8 months. Recommendations are provided for the management of the neonate with PA/EB.

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Section: Discussionmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Laparoscopic Management of Pyloric Atresia in a Neonate with Epidermolysis Bullosa

Son

Hoan

2013

Journal of Laparoendoscopic & Advanced Surgical Techniques

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“…3,4,[8][9][10] En esta asociación, hay escamas de piel fetal en el líquido amniótico (signo ecográfico de "copos de nieve" o "snowflake") y malformaciones auriculares.…”

Section: Discussionunclassified

“…1,2,10,13 En los neonatos, la biopsia de las lesiones cutáneas y el estudio ultramicroscópico determinará el tipo de epidermólisis bullosa. 9 La asociación de AP con epidermólisis bullosa simplex o distrófica es menos frecuente y la cirugía de la AP está aceptada.…”

Section: S E D E S C R I B E N M U T a C I O N E S A S O C I A D A S Aunclassified

Atresia de píloro. Comunicación de 3 casos

2014

Arch Argent Pediat

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RESUMENLa atresia de píloro es una malformación digestiva infrecuente. La ecografía prenatal mostrará polihidramnios y dilatación gástrica fetal. En el 20% de los casos, la atresia de píloro se asocia con epidermólisis bullosa, una anomalía cutáneo-mucosa de alta morbimortalidad. En la ecografía prenatal, se podrá ver el signo de los "copos de nieve" en el líquido amniótico y alteraciones auriculares en el feto. Por biopsia corial, se determinan mutaciones genéticas asociadas con epidermólisis bullosa, que confirman la asociación y permiten asesorar a los padres portadores. La herencia es autosómica recesiva y 25% de los hijos pueden manifestarla. El recién nacido con atresia de píloro tendrá vómitos no biliosos y la radiografía abdominal mostrará dilatación gástrica y ausencia de aire intestinal. La atresia de píloro es una malformación corregible quirúrgicamente, con buen resultado. Se presentan tres neonatos con atresia pilórica. Palabras clave: atresia de píloro, polihidramnios, dilatación gástrica fetal. ABSTRACTPyloric atresia is a rare malformation of the alimentary tract. Fetal gastric dilatation and polihydramnios are the main prenatal sonographic findings. In 20% of the cases epidermolysis bullosa is associated. This is a group of genetic anomalies affecting the skin and mucous membranes, which appear fragile and easily blistering. Therefore, this association should be investigated as soon as pyloric atresia is prenatally suspected. The "snow flake" sonographic sign in the amniotic fluid and some irregularities in the fetal´s ears could be found and should motivate the investigation of those gene mutations known to be related to epidermolysis bullosa, in order to accomplish an appropriate familial counseling. The parents would be carriers of certain mutation and 25% of the siblings will be affected. A newborn with pyloric atresia will soon exhibit non-bilious vomiting and distention of the upper abdomen. A huge gastric dilatation and a gasless intestine will be apparent in the abdominal plain x-ray. Pyloric atresia is a surgically resolvable malformation. We present herein three patients with this infrequent anomaly.

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“…Epidermolysis bullosa (EB) is an inherited blistering disorder characterized by the fragility of the skin and mucous membranes [1][2][3][4]. The disease can be traumatic and lethal especially for newborns and infants however non-lethal variants were reported [5].…”

Section: Introductionmentioning

confidence: 99%