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Pyloric Atresia in a Neonate With Epidermolysis Bullosa: A Case Report.
Clin Case Rep
December 2024
Department of Dermatology, Institute of Medicine University of Tsukuba Ibaraki Japan.
When surgery is performed in patients with EB, risks of blisters and epidermal detachment are always present. The Heineke-Mikulicz pyloroplasty cannot always be performed because of anatomical constraints. In such cases, it is necessary to select a more time-consuming surgical procedure (i.
View Article and Find Full Text PDFCase Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.
Glob Med Genet
December 2024
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, United States.
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing demonstrated biallelic mutations in alpha6 integrin (ITGA6): p.
View Article and Find Full Text PDFITGB4-Related pyloric atresia without epidermolysis in two siblings.
Eur J Med Genet
December 2024
Acibadem Mehmet Ali Aydinlar University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey. Electronic address:
Article Synopsis
- * Recent studies have linked mutations in the ITGB4 gene to isolated cases of pyloric atresia, particularly in families where multiple siblings are affected.
- * This case study highlights two siblings with pyloric atresia and a specific mutation in the ITGB4 gene, suggesting that this gene may play a role in the condition's development without the presence of epidermolysis bullosa.
Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant.
BMJ Case Rep
July 2024
MNR Medical College and Hospital, Sangareddy, Telangana, India.
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.
View Article and Find Full Text PDFLethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report.
JAAD Case Rep
August 2024
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
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