title: Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review.
abstract: OBJECTIVE
  The junctional form of epidermolysis bullosa (EB) is a recessively inherited mechanobullous disease in which minimal trauma results in blister formation at the dermal-epidermal junction. A rare form associated with pyloric atresia (JEB-PA) is a severe clinical subtype leading to rapid demise after birth, thus justifying prenatal diagnosis. The case characterized by abnormal ultrasound findings at 35 weeks of gestation (gastric dilatation associated with polyhydramnios) of a patient with no family history is reported.
  
  
  METHODS
  Postabortion skin biopsies were analyzed by immunofluorescence that revealed marked reduction of integrin alpha6beta4 in accordance with the diagnosis of JEB-PA.
  
  
  RESULTS
  Amniotic fluid contained excess total protein (4 MoM), abnormally high AFP (20.4 MoM) related to skin lesions and abnormally elevated digestive enzyme suggestive of fetal vomiting of bile. The electrophoretic pattern of cholinesterases was unusual (additional slow band). Maternal serum AFP was 3.14 MoM and free beta-hCG 13.1 MoM. Because of these concomitant findings, JEB-PA was suspected.
  
  
  CONCLUSIONS
  The case under study was atypical because of late clinical manifestations of the disease: polyhydramnios, gastric enlargement. As maternal serum AFP at 15 weeks may be normal, it was suggested that discovery of polyhydramnios during the second or the third trimester should prompt biochemical analysis of amniotic fluid, such as AFP and GGTP assay in all cases.
authors.affiliation: Gynécologie-Obstétrique, Hôpital Robert Debré, AP-HP, Paris, France.
authors.forename: Madeleine
authors.initials: M
authors.lastname: Azarian
authors.forename: Sophie
authors.initials: S
authors.lastname: Dreux
authors.forename: Edith
authors.initials: E
authors.lastname: Vuillard
authors.forename: Guerrino
authors.initials: G
authors.lastname: Meneguzzi
authors.forename: Saranda
authors.initials: S
authors.lastname: Haber
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.forename: Françoise
authors.initials: F
authors.lastname: Muller
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry; D003937:Diagnosis, Differential; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D014463:Ultrasonography