Pyloric atresia epidermolysis bullosa aplasia cutis syndrome

Hassan, Mohamed Elsayed; Ali, Khaled Al; Khalaf, Mona; Taryam, Layla

doi:10.1097/01.xps.0000428235.41499.e6

Cited by 4 publications

(4 citation statements)

References 6 publications

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“…Their findings included polyhydramnios and single bubble sign. [ 1 7 8 ] In the present series, 7 out of 11 cases were diagnosed antenatally [ Figure 1 ]. In the published literature, 5 out of 11 cases showed antenatal suspicion.…”

Section: Discussionmentioning

confidence: 84%

“…EB is often associated with pyloric atresia . 4 ,[ 8 9 10 ] It is a mechanobullous disorder characterized by increased skin fragility and blister formation. [ 11 12 ] The association is classical and characteristic.…”

Section: Discussionmentioning

confidence: 99%

“…[ 11 12 ] The association is classical and characteristic. [ 1 2 7 8 9 ] EB is associated with type 6 aplasia cutis congenita. [ 13 14 ] They are usually caused by genetic errors.…”

Section: Discussionmentioning

confidence: 99%

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Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review

Prasad

Rao

Fatima

et al. 2021

J Indian Assoc Pediatr Surg

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Introduction: Pyloric atresia is a rare cause of congenital gastric outlet obstruction. It is often associated with epidermolysis bullosa (EB). Rarity and experience with 11 cases are the reason for this publication. Aims and Objectives: The aim and objective of this study is to present our experience of 11 cases of congenital pyloric atresia and correlate with available literature. Materials and Methods: This was retrospective cohort of 11 cases correlative comparative study. Data of all the 11 cases from 1982 to 2019 were collected, reviewed, and analyzed. The parameters studied included age, gender, antenatal diagnosis, postnatal diagnosis, preoperative management, intraoperative findings, postoperative course outcome, associated anomalies, and any genetic studies if done. All these parameters were compared with published data. Results: There were 11 cases in the present series with six boys and five girls. Most of them presented at varying periods from birth to day 1 of life. Discussion: Congenital pyloric atresia may be isolated or associated with EB. Three varieties of pyloric atresia were described. Association with EB increases the mortality. Conclusions: Review and analysis of 11 cases of pyloric atresia compared with published literature is being reported.

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

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Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review

Prasad

Rao

Fatima

et al. 2021

J Indian Assoc Pediatr Surg

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“…Significant oral and mucous membrane involvement is common. Congenital absence of skin (aplasia cutis congenita) is present in approximately 20% of cases 11. Additional features of EB-PA may include fusion of the skin between the fingers and toes, nail dystrophy, scarring alopecia, contractures and dilated cardiomyopathy.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa and congenital pyloric atresia

Mithwani¹,

Hashmi²,

Adil³

2013

BMJ Case Reports

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SUMMARYThe association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, welldemarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida. BACKGROUND

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Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant

Reddy,

Anand,

Padhi

et al. 2024

BMJ Case Rep

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A term male baby was born vaginally to a primi mother. An antenatal ultrasound revealed polyhydramnios and a distended stomach in the baby. At birth, the baby had well-defined areas of peeling skin on the face and blisters on the forearm region. The abdominal X-ray revealed a single gastric bubble, which is consistent with pyloric atresia and needs surgery. Pyloroplasty was initially performed, but it was unsuccessful. Therefore, a feeding jejunostomy and gastrostomy were performed. However, the baby developed sepsis and septic shock and died at about 2 months of age. Skin biopsy revealed cleavage above the lamina densa, and genetic analysis indicated heterozygosity in ITGB4 exons 10 and 16, which are associated with epidermolysis bullosa junctionalis and pyloric atresia.

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Pyloric atresia epidermolysis bullosa aplasia cutis syndrome

Cited by 4 publications

References 6 publications

Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review

Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review

Epidermolysis bullosa and congenital pyloric atresia

Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant

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