title: Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs.
abstract: BACKGROUND
  Up to 0.5% of churra lambs from two genetically related flocks showed congenital skin lesions of variable severity, jeopardizing the life of the lambs in the most severe cases.
  
  
  OBJECTIVE
  The primary objective of this study was to classify the type of congenital epithelial disease suffered by these animals, based on the description of the macroscopic skin defects, the histological and ultrastructural changes and the hereditary nature of the condition.
  
  
  METHODS
  Thirty affected newborn lambs from two genetically related flocks were studied. Three additional lambs acquired from two other flocks, which had no grossly apparent skin lesions and had died of infectious diseases, were studied as unaffected control animals.
  
  
  METHODS
  Histological and ultrastructural examinations of skin and oral mucosa samples were performed. Pedigree analyses were used to investigate genealogical relationships.
  
  
  RESULTS
  Generalized severe junctional epidermolysis bullosa with congenital absence of skin was described in all lambs studied and an autosomal recessive mode of inheritance was identified.
  
  
  CONCLUSIONS
  The pathological findings and mode of inheritance in these lambs are similar to an inherited epidermolysis bullosa subtype of humans, which has not been reported previously in veterinary medicine.
authors.affiliation: Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Julio
authors.identifier: http://orcid.org/0000-0001-9706-100X
authors.initials: J
authors.lastname: Benavides
authors.affiliation: Departamento de Producción Animal, Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Aroa
authors.initials: A
authors.lastname: Suárez-Vega
authors.affiliation: Asociacon nacional de criadores de ganado ovino selecto de raza churra (ANCHE), Avd Casado del Alisal 21, Palencia, 34001, Spain.
authors.forename: Jorge
authors.initials: J
authors.lastname: Gutiérrez
authors.affiliation: Asociacon nacional de criadores de ganado ovino selecto de raza churra (ANCHE), Avd Casado del Alisal 21, Palencia, 34001, Spain.
authors.forename: Sandra
authors.initials: S
authors.lastname: de la Hera
authors.affiliation: Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Fuertes
authors.affiliation: Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Delgado
authors.affiliation: Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández
authors.affiliation: Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: María del Carmen
authors.initials: Mdel C
authors.lastname: Ferreras
authors.affiliation: Departamento de Producción Animal, Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Arranz
authors.affiliation: Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, León, 24071, Spain.
authors.forename: Valentín
authors.initials: V
authors.lastname: Pérez
mesh_terms: D000818:Animals; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D005260:Female; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000662:veterinary; D010375:Pedigree; D012756:Sheep; D012757:Sheep Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology / Q000662:veterinary*