title: [Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleeding in children].
abstract: BACKGROUND
  Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive connective tissue disorder, characterized by calcification and progressive fragmentation of elastic fibers. Gastrointestinal lesions are rare in children and may be responsible for serious complications. This article reports two pediatric cases of PXE revealed by gastrointestinal bleeding.
  
  
  METHODS
  An 11-year-old boy and a 12-year-old girl were hospitalized for gastrointestinal bleeding. Digestive endoscopy showed hemorrhagic gastroenteritis bulbitis in the first case and it was normal in the second. Abdominal ultrasound showed diffuse linear calcifications in both cases. The diagnosis of PXE was retained based on the presence of vascular disease in both patients, a skin lesion in the girl, and an ocular lesion in the boy. The genetic study confirmed the diagnosis of PXE identifying two ABCC6 mutations in the composite state in the boy: the c.2263G> A (p.G755R) mutation on exon 18 and the c.3421C> T (pR1141X) mutation on exon 24 and the 4021G> A (R1164Q) mutation in the homozygous state of ABCC6 exon 24 in the girl.
  
  
  CONCLUSIONS
  Digestive manifestations are unusual ; however, pseudoxanthoma elasticum should be considered in all cases of gastrointestinal bleeding for no apparent reason. Early diagnosis allows prevention and measures to control the risk factors and limit the progression of complications.
authors.affiliation: Service de pédiatrie IV, hôpital d'enfants de Rabat, faculté de médecine et de pharmacie de Rabat, université Mohamed V-Suissi, Rabat, Maroc. Electronic address: asmaadibi@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Dibi
authors.affiliation: Service analyses biologiques/PGF/UATRS/CNRST, BP 8027 NU, 10102 Rabat Maroc.
authors.forename: E L
authors.initials: EL
authors.lastname: El Fahime
authors.affiliation: Service de pédiatrie III, hôpital d'enfants de Rabat, Rabat, Maroc.
authors.forename: N
authors.initials: N
authors.lastname: Mouane
authors.affiliation: Service de radiologie pédiatrique, hôpital d'enfants de Rabat, faculté de médecine et de pharmacie de Rabat, université Mohamed V-Suissi, Rabat, Maroc.
authors.forename: R
authors.initials: R
authors.lastname: Dafiri
authors.affiliation: Service de pédiatrie IV, hôpital d'enfants de Rabat, faculté de médecine et de pharmacie de Rabat, université Mohamed V-Suissi, Rabat, Maroc.
authors.forename: A
authors.initials: A
authors.lastname: Bentahila
mesh_terms: D002648:Child; D005091:Exons; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D006801:Humans; D008297:Male; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human