Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs

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. Hypothesis/Objectives 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. Animals 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 and clinical importance 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. Resumen Introducción hasta un 0,5% de los corderos de raza Churra de dos rebaños genéticamente relacionados mostraron defectos congénitos de la piel de severidad variable, poniendo en peligro la vida de los corderos en los casos más severos Hipótesis/Objetivos el objetivo primario de este estudio fue clasificar el tipo de enfermedad epitelial congénita sufrido por estos animales basado en la descripción de los defectos de la piel macroscópicos, los cambios histológicos y ultraestructurales, y la naturaleza hereditaria de la condición. Animales 30 corderos recién nacidos afectados de dos rebaños genéticamente relacionados fueron objeto del estudio. Se adquirieron como animales control no afectados tres corderos adicionales de otros dos diferentes rebaños, sin que presentaran lesiones de la piel aparentes y que habían muerto de enfermedades infecciosas. Métodos se desarrolló el examen histológico y ultraestructural de la piel y la mucosa oral. El análisis de pedigree se utilizó para investigar las relaciones genealógicas Resultados se describe epidermolisis bullosa de la unión generalizada severa con ausencia congénita de la piel en todos los