The Turkish Journal of Pediatrics 2015 , Vol 57 , Num 4
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)
Division of 1Neonatology, and 4Pediatric Cardiology 3Department of Pediatrics, and 2Department of Medical Biology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey, 5 Division of Genetics and Molecular Medicine, Department of Dermatology, King’s College London (Guy’s Campus), St John’s Institute of Dermatology, London, United Kindom.
Email: drmehmetmutlu38@hotmail.com
Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). Turk J Pediatr 2015; 57: 385-387.

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal– epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6β4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation. Keywords : epidermolysis bullosa, pyloric atresia, mutation, newborn.

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