title: Management of digestive lesions associated to congenital epidermolysis bullosa.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatric Surgery, School of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: Jamila
authors.initials: J
authors.lastname: Chahed
authors.forename: Mongi
authors.initials: M
authors.lastname: Mekki
authors.forename: Amine
authors.initials: A
authors.lastname: Ksia
authors.forename: Nehla
authors.initials: N
authors.lastname: Kechiche
authors.forename: Saida
authors.initials: S
authors.lastname: Hidouri
authors.forename: Trimech Monia
authors.initials: TM
authors.lastname: Youssef
authors.forename: Lassaad
authors.initials: L
authors.lastname: Sahnoun
authors.forename: Imed
authors.initials: I
authors.lastname: Krichene
authors.forename: Mohsen
authors.initials: M
authors.lastname: Belghith
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Nouri
mesh_terms: D002648:Child; D013505:Digestive System Surgical Procedures / Q000379:methods*; D019468:Disease Management; D004820:Epidermolysis Bullosa / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D004940:Esophageal Stenosis / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D004945:Esophagoscopy; D005471:Fluoroscopy; D005500:Follow-Up Studies; D017219:Gastric Outlet Obstruction / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011708:Pylorus / Q000002:abnormalities* / Q000601:surgery; D013902:Radiography, Thoracic; D012189:Retrospective Studies