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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., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: The authors declare that they have no conflict of interest.

This is a case of a neonate with suspected duodenal atresia on prenatal imaging. However, distal bowel gas was identified postnatally on regular X-rays with a possible pyloric obstructing mass visualised on ultasound. No contrast was visualised passing through the stomach on fluoroscopic studies. Operative evaluation revealed an atypical asymmetric hypertrophic pylorus with exophytic lesions of ectopic glandular tissue. Longitudinal open pyloromyotomy was performed which relieved the gastric obstruction resulting in symptomatic relief without any anatomy altering procedure required., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Congenital pyloric atresia (CPA) is a rare condition that presents as gastric outlet obstruction in the first few weeks of life. Isolated CPA typically carries a good prognosis but when associated with other conditions such as multiple intestinal atresia or epidermolysis bullosa (EB), the outcomes are generally poor. This report describes a four-day-old infant who presented with nonbilious emesis and weight loss in whom an upper gastrointestinal contrast study revealed gastric outlet obstruction determined to be consistent with pyloric atresia. The patient underwent operative repair via Heineke-Mikulicz pyloroplasty. Postoperatively, the patient continued to have severe diarrhea and was found to have desquamative enteropathy though had no skin findings consistent with EB. This report emphasizes consideration of CPA as a differential diagnosis for neonates presenting with nonbilious emesis and demonstrates the association between CPA and desquamative enteropathy without EB., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by the blistering of the skin and mucous membranes. Although the molecular basis of EB has been significantly elucidated, the precise phenotypes of the lethal types of EB have not been completely characterized. Herein, we report a severe case of EB with pyloric atresia (PA). The patient was a Japanese boy who not only had skin lesions but also various complications such as PA, dysphagia, hypotonia, infectious keratitis with corneal ulcer, obstructive uropathy and protein-losing enteropathy. Genetic analysis led to the identification of two novel compound heterozygous mutations in the last exon of the plectin (PLEC) gene. Based on this finding, EB simplex with PA was diagnosed. Immunostaining with anti-plectin antibodies revealed truncated plectin proteins lacking the C-terminus in the patient's skin. We also conducted a prenatal diagnosis in subsequent pregnancy. Our report further highlights the crucial role of plectin in many organs and provides valuable information regarding the phenotypes resulting from mutations in the PLEC gene., (© 2022 Japanese Dermatological Association.)

How should the medical team approach care for a very preterm infant with a significant painful and life-limiting condition when the parents wish to pursue all life-sustaining therapies? Here, we discuss a case of an infant born at 28 weeks' gestation with a diagnosis of Carmi syndrome (junctional epidermolysis bullosa and pyloric atresia). While the medical team felt that a do-not-resuscitate order and redirection to comfort care were appropriate, the family held on to hope for recovery and wished to continue with full intensive care measures.

Objective: Pyloric atresia is one of the rarest surgical diseases in newborns. Laparotomy is the most common approach to correct this abnormality. In the modern scientific literature, there is only one report on the endosurgical treatment of pyloric atresia. The case of laparoscopic correction of gastric outlet atresia presented in this study is another reference to the successful treatment of this condition. Methods: The clinical case is presented by a newborn boy in whom a prenatal ultrasound (US) examination at 31 weeks of gestation revealed polyhydramnios and an enlarged stomach. The baby was born on 37th week of gestation, his birth weight was 2660 g. In the 1st hours of life, the child showed symptoms of high intestinal obstruction in the form of vomiting of gastric contents. Postnatal US and X-ray examination established the diagnosis of pyloric atresia. During laparoscopy, performed on the 2nd day of life, the morphological type of anomaly was assessed and type I atresia, represented by a membrane, was established. A laparoscopic membranectomy with Heineke-Mikulicz pyloroplasty was performed. The early and late results of the operation were investigated. Results: The duration of the operation was 70 minutes. The postoperative period was uneventful. Enteral nutrition was started on the postoperative day (POD) 3. A complete enteral diet became possible on day 7. The newborn was discharged from the hospital on the POD 9. Histological examination confirmed the diagnosis of membranous type of pyloric atresia. During follow-up for 12 months, no complications associated with the surgical procedure were found. Conclusion: Description of the case of laparoscopic treatment of type I pyloric atresia in a newborn expands the use of laparoscopy in pediatric practice.

Pyloric atresia (PA) is a rare gastrointestinal anomaly that occurs either as an isolated lesion or in association with other congenital or hereditary anomalies. Familial occurrence of PA with epidermolysis bullosa (EB) has been well documented and variants in ITGA6, ITGB4, and PLEC are known to cause EB with PA. However, no gene variants have been defined in familial isolated PA. Five siblings with familial isolated PA are presented that suggest biallelic ITGB4 variants may underlie the development of PA without EB. Five siblings from two unrelated families with isolated PA were studied with exome sequencing (ES) to identify the genetic etiology in isolated familial cases. Exome sequencing was performed in one affected patient from each family. Validation and segregation studies were done by Sanger sequencing. Parents were first cousins in one family but there was no consanguinity in the other family. Type-2 PA was detected in both families and none of the probands had associated anomalies. All patients underwent successful gastroduodenostomy and have been under follow-up uneventfully. All patients had biallelic ITGB4 variants, c.2032G > T p.(Asp678Tyr) being a novel one. Biallelic ITGB4 variants may underlie the development of PA without associated EB. Further detection of variants in this gene may establish any possible genotype-phenotype correlations., (© 2021 Wiley Periodicals LLC.)

Purpose: Pyloric atresia is an uncommon congenital anomaly that may present with emesis and dehydration early in infancy. Definitive therapy consists of pyloroplasty or gastroduodenostomy depending on the subtype of atresia involved., Case Presentation: We report the case of a 2-day-old girl infant who presented with nonbilious emesis with feeds. Abdominal ultrasound and upper gastrointestinal series were performed and demonstrated a dilated, air-filled stomach with no distal air or passage of contrast. The patient was successfully treated by laparoscopic-assisted open pyloroduodenostomy of a type 2 pyloric atresia., Conclusion: Type 2 pyloric atresia is a rare clinical entity that can present with symptoms of gastric outlet obstruction. The patient described was treated by laparoscopic-assisted open pyloroduodenostomy, which has not been previously described for pyloric atresia. This work demonstrates an example of the safety and efficacy of laparoscopic surgery for infants with this anomaly., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 pathogenic variants in eight genes, were included in the genotype-phenotype analysis. In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CAS was also described in patients with keratins 5/14 alterations, particularly involving severe phenotypes. In JEB, this is a common clinical sign in JEB with PA associated with premature termination codon variants and/or amino acid substitutions located in the extracellular domain of integrin α6β4 genes. In DEB with CAS, missense variants occurring close to non-collagenous interruptions of the triple-helix domain of collagen VII appear to influence this condition. This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Competing Interests: Die Autoren geben an, dass kein Interessenkonflikt besteht.

Competing Interests: None

Alimentary tract duplications are a rare congenital malformation. They can present with varied symptoms owing to the locality of the duplication, along the gastrointestinal tract. Out of these duplications, the ones along the pylorus are the most rare. These are usually only diagnosed intraoperatively, as it is not a common differential on imaging due to its rarity. In lieu of the literature currently available, pyloric duplication cyst can present anytime from 1 week of age to 5 years, with some cases being detected antenatally due to the prevalence of regular antenatal scanning. Surgery remains the main stay of treatment with the goal of complete excision of the cyst and complete removal of the cyst mucosal lining. We report the case of a 5-year-old girl, which to our knowledge is the first ever reported case from Karachi, Pakistan., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Background: Minimal access surgery (MAS) has gained popularity in infants less than 5kg, however, significant challenges still arise in very low weight infants., Study Design: A retrospective chart review was performed to identify all infants weighing less than 3kg who underwent an advanced MAS or equivalent open procedure from 2009 to 2016. Advanced case types included Nissen fundoplication, duodenal atresia repair, Ladd procedure, congenital diaphragmatic hernia repair, esophageal atresia/tracheoesophageal fistula repair, diaphragmatic plication, and pyloric atresia repair. A comparative analysis was performed between the MAS and open cohorts., Results: A total of 45 advanced MAS cases and 17 open cases met the inclusion criteria. Gestational age and age at operation were similar between the cohorts, while infants who underwent open procedures had significantly lower weight at operation (p=0.003). There were no deaths within 30days related to surgery in either group. Only 3 MAS cases required unintended conversion to open. There were 2 (4.4%) postoperative complications related to surgery in the MAS cohort and 2 (11.8%) in the open cohort., Conclusion: Advanced MAS may be performed in infants weighing less than 3kg with low mortality, acceptable rates of conversion, and similar rates of complications as open procedures., Type of Study: Prognosis study., Level of Evidence: Level III., (Copyright © 2017 Elsevier Inc. All rights reserved.)

We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin β4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Pyloric atresia is a rare congenital malformation. We report a case in a 5-day newborn with pyloric atresia type C. Authors emphasize the diagnostic difficulties and therapeutic challenges in a resource-limited country.

Objective: To describe seven cases of gastrointestinal tract (GIT) obstructions and to report a skewed review of the literature., Methods: We performed a search of our permanent perinatal database about cases with prenatal ultrasound and MRI diagnosis of gastrointestinal tract obstructions between 2006 and 2013. All cases were followed until hospital discharge and pre-natal diagnosis were confirmed by fetal MRI, postnatal imaging and/or intra-operative findings. Maternal age, parity, gestational age at diagnosis, ultrasound findings, gestational age at delivery, Apgar scores at 1 and 5 min and postnatal outcome have been recorded., Results: We identified seven cases of gastric and small bowel atresia. Karyotype was normal in six cases and abnormal in one co-twin [46,XY dup (20) (qq13.1q13.3)dn] of a dichorionic-diamniotic pregnancy. The mean ± SD for maternal age, gestational age at diagnosis, gestational at delivery, birth weight and Apgar scores at 1 and 5 min were 30.8 ± 4.8 years, 29.8 ± 3.7 weeks, 2507.5 ± 727.5 g and 5.6 ± 2.1, 7.6 ± 1.6, respectively. All fetuses' undergone surgical procedures in the postnatal period and all of them were discharged live from the hospital., Conclusion: Prompted antenatal detection of gastrointestinal tract obstruction using ultrasound proved to be diagnostic in all cases. Fetal MRI aid was a useful complementary diagnostic investigation. Correct pre-natal diagnosis allows adequate counseling, delivery planning and management care by a multidisciplinary team.

Pyloric atresia may occur as an isolated or pure atresia or may be associated with other anomalies like those involving skin, renal or gastrointestinal systems etc. The most frequent association is with junctional epidermolysis bullosa, a rare autosomal recessive disorder affecting the skin and mucosa. We present a prospective evaluation of three patients of pyloric atresia at our institute over last 2 years (2012-2014)-one of them presenting at 5th day of life and the other two at 5 and 6 years of age, respectively. Two of them did not have any other associated anomaly whereas one patient had incidental finding of Meckel's diverticulum at the time of surgery for pyloric atresia plus he had been operated upon for right-sided pelvioureteric junction obstruction at 1 year of age. All patients underwent laparotomy after stabilization. The two patients presenting late had type 1 pyloric atresia with a pyloric membrane having a central hole in both the patients. So, excision of the membrane with Heineke Mikulicz pyloroplasty was done in both of them. The neonate who presented early had type 2 pyloric atresia and underwent Finney's pyloroplasty.

Background: Pyloric atresia (PA) is a rare condition, and may be misdiagnosed and especially confused for duodenal atresia pre-operatively. We looked for clues to avoiding pre-operative misdiagnosis and hence allow the best neonatal medical and surgical management., Methods: A retrospective case-note review was carried out of the five patients managed in four centres with the diagnosis of isolated PA. We focused on antenatal ultrasound findings, postnatal clinical and radiological features, operative findings, surgical procedures and outcomes., Results: Four patients had polyhydramnios and one double bubble sign on antenatal ultrasound. After birth, non-bilious vomiting and upper abdominal distension were the main symptoms. Gastric decompression showed non-bilious gastric fluid. Radiological findings were a large gastric air bubble with no gas beyond in all cases. The diagnosis of duodenal atresia was postulated at first in all cases. The diagnosis of PA was established peroperatively. One patient referred late, died 13-day post-operatively of cardiopulmonary failure secondary to a severe pneumonia that may be related to aspiration syndrome. Outcomes were otherwise satisfactory., Conclusions: Even though it is a rare diagnosis, PA has a specific clinical and radiological presentation underlined here that should be kept in mind when managing a neonate with a gastric outlet obstruction.

Epidermolysis bullosa and Bart´s syndrome are fairly accurately documented diseases by histopathology. In the article the authors describe interesting and hitherto undescribed phenomenon in the lungs male infant with epidermolysis bullosa junctionalis and Barts syndrome, who died 17 days after birth and 13 days after surgery for pyloric atresia, on multiorgan failure within basic congenital diseases.Histologically in lung alveoli was found to the massive presence of foamy macrophages and numerous globoid formations resembling morphological and immunohistochemical "Hassall´s" bodies in a thymus of the newborn. It was a acidophillic spherical bodies concentric tracks in the connective tissue with focal presence of fibrin, as a unique proof CKAE1/AE3 and CKHMW positive epithelial cells and CD68-positive histiocytic elements. An interesting finding was the follicular skin structure in the center "hassalloid´s-like" body, which suggests an aspiration components of the skin during intrauterine life.Normal Apgar score at birth of the child (10/10/10 s.) and severe histological features on the death of the child testify for the first pathogenetic formation "hassalloid´s-like" bodies in the lungs during the 17-day life of a disabled child.

Background: Congenital epidermolysis bullosa (CEB) is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA) and oesophageal stenosis (OS) are considered the most serious digestive lesions to occur.The aim of this work is to study the management and the outcome of digestive lesions associated to CEB in four children and to compare our results to the literature., Patients and Methods: A retrospective study of four observations: Two cases of PA and two cases of OS associated to CEB managed in the Paediatric Surgery Department of Fattouma Bourguiba Teaching Hospital in Monastir, Tunisia., Results: Four patients, two of them are 11 and 8 years old, diagnosed as having a dystrophic epidermolysis bullosa since the neonatal period. They were admitted for the investigation of progressive dysphagia. Oesophageal stenosis was confirmed by an upper contrast study. Pneumatic dilation was the advocated therapeutic method for both patients with a favourable outcome. The two other patients are newborns, diagnosed to have a CEB because of association of PA with bullous skin lesions with erosive scars. Both patients had a complete diaphragm excision with pyloroplasty. They died at the age of 4 and 3 months of severe diarrhoea resistant to medical treatment., Conclusion: Digestive lesions associated to CEB represent an aggravating factor of a serious disease. OS complicating CEB is severe with difficult management. Pneumatic dilatation is the gold standard treatment method. However, the mortality rate in PA with CEB is high. Prenatal diagnosis of PA is possible, and it can help avoiding lethal forms.

Plectin has been characterized as a linker protein that is expressed in many cell types and is distinctive in various isoforms in the N-terminus and around the rod domain due to complicated alternative splicing of PLEC, the gene encoding plectin. Plectin deficiency causes autosomal recessive epidermolysis bullosa simplex (EBS) with involvement of the skin and other organs, such as muscle and gastrointestinal tract, depending on the expression pattern of the defective protein. In addition, a point mutation in the rod domain of plectin leads to autosomal dominant EBS, called as EBS-Ogna. Plectin can be targeted by circulating autoantibodies in subepidermal autoimmune blistering diseases. This review summarizes plectin-related skin diseases, from congenital to autoimmune disorders., (Copyright © 2014 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.)

Bowel obstruction is a common cause for admission into the NICU, but pyloric atresia (PA) is a very rare cause of bowel obstruction. This article illustrates the development of the fetal gastrointestinal tract, most specifically the stomach and pylorus. Pathophysiology, typing, and treatment of PA are also explored. Presented are two cases of PA that occurred in a Level III NICU one month apart. Management of this condition is surgical in nature. Long-term prognosis is usually excellent because this defect is often isolated.

Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of all intestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as an isolated condition or associated with other abnormalities, the most common being Junctional epidermolysis bullosa (JEB). Evidence suggests that PA-EB (Pyloric Atresia - Epidermolysis Bullosa) Syndrome is a distinct entity. In this report, we present three cases of pyloric atresia, one of which was associated with Junctional epidermolysis bullosa. The literature on the subject is also reviewed.

Pyloric 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.

Background: Congenital pyloric atresia (CPA) is a very rare anomaly. It is usually seen as an isolated condition with excellent prognosis. Few cases are familial. These are usually associated with other hereditary conditions and have a poor prognosis. This is a review of our experience with 20 patients with CPA outlining aspects of diagnosis, associated anomalies and management., Patients and Methods: This is a retrospective analysis of 20 cases seen over a 22 year period (December 1990 to December 2012). Their records reviewed for: age, sex, presentation, prenatal history, associated anomalies, investigations, treatment, operative findings and the outcome., Results: 20 cases (9 Males, 11 Females) were treated. 7 patients were full term and the remaining 13 were prematures. Their mean birth weight was 2.1 kg (1.1 kg to 3.9 kg). Polyhydramnios was seen in 13 patients (65%). Two were brothers and four were members of the same family. Isolated CPA was seen in 7 (35%); 13 had an associated conditions: epidermolysis bullosa (EB) in 8 (40%) and multiple intestinal atresias (MIA) in 5 (25%). Three patients had associated esophageal atresia. All were operated on except two who died early due to unrelenting sepsis. The variety of pyloric atresias encountered were as follows: pyloric diaphragm in 13 including double diaphragms in 2, pyloric atresia with a gap in 4 and pyloric atresia without gap in 3. Ten died postoperatively giving an overall survival of 40%., Conclusions: CPA is a very rare condition. Isolated CPA carries a good prognosis. Association of CPA with other familial and congenital anomalies like EB and MIA carries a poor prognosis., (© 2014.)

Pyloric atresia with epidermolysis bullosa (EB) dystrophica is a rare entity that may not be immediately recognized. We describe the fourth confirmed case of pyloric atresia associated with the dystrophic subtype of EB diagnosed by standard pathologic measures, and discuss the clinical disease features and recent advances in the pathophysiology.

Double pylorus and gastroduodenal fistula are rare conditions and can be either congenital or acquired. We report a case of a 58-year-old man with epigastric pain and dyspepsia in which the upper gastrointestinal endoscopy revealed an acquired double pylorus, probably caused by a gastric ulcer.

Background: Abnormalities in pyloric development or in contractile function of the pylorus cause reflux of duodenal contents into the stomach and increase the risk of gastric metaplasia and cancer. Abnormalities of the pyloric region are also linked to congenital defects such as the relatively common neonatal hypertrophic pyloric stenosis, and primary duodenogastric reflux. Therefore, understanding pyloric development is of great clinical relevance. Here, we investigated the role of the LIM homeodomain transcription factor Isl1 in pyloric development., Results: Examination of Isl1 expression in developing mouse stomach by immunohistochemistry, whole mount in situ hybridization and real-time quantitative PCR demonstrated that Isl1 is highly expressed in developing mouse stomach, principally in the smooth muscle layer of the pylorus. Isl1 expression was also examined by immunofluorescence in human hypertrophic pyloric stenosis where the majority of smooth muscle cells were found to express Isl1. Isl1 function in embryonic stomach development was investigated utilizing a tamoxifen-inducible Isl1 knockout mouse model. Isl1 deficiency led to nearly complete absence of the pyloric outer longitudinal muscle layer at embryonic day 18.5, which is consistent with Gata3 null mouse phenotype. Chromatin immunoprecipitation, luciferase assays, and electrophoretic mobility shift assays revealed that Isl1 ensures normal pyloric development by directly targeting Gata3., Conclusions: This study demonstrates that the Isl1-Gata3 transcription regulatory axis is essential for normal pyloric development. These findings are highly clinically relevant and may help to better understand pathways leading to pyloric disease.

Barts syndrome, in literature also known under the name CLAS (Congenital Localised Absence of Skin), first described by Bart in 1966 as congenital localized absence of skin, epidermolysis bullosa congenita and nail abnormalities. The authors present a macroscopic and histological findings of a newborn with Barts syndrome, with epidermolysis bullosa junctionalis and atresia pylori, who died 17 days after birth and 13 days after surgery for pyloric stenosis.

Duplication of the digestive tract is a very rare malformation in children whereas the congenital pyloric duplication is extremely rare, few cases being described in the literature. We present the case of a male infant, aged seven days, who was diagnosed at 17 weeks of gestation with a cystic mass in the abdomen and who presented vomiting in the sixth day of life. Ultrasound and CT diagnosed a pyloric duplication cyst. The malformation was visualized intraoperatively and removed successfully without incidents. The infant's postoperative evolution was excellent, with an upward weight curve without a dumping syndrome. Finally, we present a review of the published cases of congenital pyloric duplications in the world, this one being the fifth one reported of the prenatally diagnosed cases.