A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation - 31/01/18
Doi : 10.1016/j.jpeds.2017.09.023
Lauren Ko, MEd 1, 2, Cornelia L. Griggs, MD 1, 3, Konstantinos S. Mylonas, MD 1, 4, * 
, Peter T. Masiakos, MD, MS, FACS, FAAP 1, 4, Daniela Kroshinsky, MD, MPH 1, 2
, Peter T. Masiakos, MD, MS, FACS, FAAP 1, 4, Daniela Kroshinsky, MD, MPH 1, 2 1 Harvard Medical School, Boston, MA
2 Department of Dermatology, Massachusetts General Hospital, Boston, MA
3 Department of Surgery, Massachusetts General Hospital, Boston, MA
4 Division of Pediatric Surgery, Massachusetts General Hospital, Boston, MA
*Reprint requests: Konstantinos S. Mylonas, MD, Division of Pediatric Surgery, Massachusetts General Hospital, Warren 11, 55 Fruit St, Boston, MA 02114.Division of Pediatric SurgeryMassachusetts General HospitalWarren 1155 Fruit StBostonMA02114
Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : junctional epidermolysis bullosa, pyloric atresia, pyloroplasty, surgery, ITGB4 gene mutation
Abbreviations : EB, IGB4, JEB, PA
Plan
| The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tous droits réservés.
Vol 193
P. 261 - février 2018 Retour au numéro
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