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.

[1]  G. X. Medeiros,et al.  Epidermolysis bullosa in animals: a review. , 2015, Veterinary dermatology.

[2]  E. Bauer,et al.  Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. , 2014, Journal of the American Academy of Dermatology.

[3]  C. Bodemer,et al.  Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study , 2014, The British journal of dermatology.

[4]  B. Gawronska-Kozak,et al.  Animal models of skin regeneration. , 2014, Reproductive biology.

[5]  M. Selores,et al.  Bart syndrome , 2014, International journal of dermatology.

[6]  J. Browning.  Aplasia cutis congenita: approach to evaluation and management , 2013, Dermatologic therapy.

[7]  C. Ligios,et al.  Pathology in practice. Epitheliogenesis imperfecta in a lamb. , 2013, Journal of the American Veterinary Medical Association.

[8]  M. Hewicker-Trautwein,et al.  Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. , 2012, Journal of comparative pathology.

[9]  J. Benavides,et al.  Dystrophic epidermolysis bullosa in Assaf lambs. , 2011, Journal of comparative pathology.

[10]  J. Uitto,et al.  Animal models of epidermolysis bullosa: update 2010. , 2010, The Journal of investigative dermatology.

[11]  Y. Matsuzaki,et al.  Overview of epidermolysis bullosa , 2010, The Journal of dermatology.

[12]  E. Bauer,et al.  The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. , 2008, Journal of the American Academy of Dermatology.

[13]  M. Mikkola.  p63 in Skin Appendage Development , 2007, Cell cycle.

[14]  J. M. Casanova,et al.  Síndrome de Bart asociado a epidermólisis ampollosa hereditaria letal (Herlitz) , 2006 .

[15]  M. Benoit-Biancamano,et al.  Aplasia Cutis Congenita (Epitheliogenesis Imperfecta) in Swine: Observations from a Large Breeding Herd , 2006, Journal of Veterinary Diagnostic Investigation.

[16]  J. Uitto,et al.  Epidermolysis Bullosa, Pyloric Atresia, and Obstructive Uropathy: A Report of Two Case Reports with Molecular Correlation and Clinical Management , 2000, Pediatric dermatology.

[17]  R. Carmi,et al.  Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. , 1998, American journal of medical genetics.

[18]  J. Uitto,et al.  Hemidesmosomal variants of epidermolysis bullosa , 1998 .

[19]  W. Lambert,et al.  Epidermolysis Bullosa Associated with Congenital Localized Absence of Skin, Fetal Abdominal Mass, and Pyloric Atresia ** , 1997, Pediatric dermatology.

[20]  W. Carter,et al.  Defective Integrin α6β4 Expression in the Skin of Patients With Junctional Epidermolysis Bullosa and Pyloric Atresia , 1996 .

[21]  E. Epstein,et al.  Bart's syndrome. Ultrastructure and genetic linkage. , 1995, Archives of dermatology.

[22]  W. Carter,et al.  Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin beta 4 that inhibit hemidesmosome formation. , 1994, The Journal of investigative dermatology.

[23]  F. Ehrensperger,et al.  Animal model for dermolytic mechanobullous disease: sheep with recessive dystrophic epidermolysis bullosa lack collagen VII. , 1991, The Journal of investigative dermatology.

[24]  I. Frieden.  Aplasia cutis congenita: a clinical review and proposal for classification. , 1986, Journal of the American Academy of Dermatology.

[25]  M. Alley,et al.  An epidermolysis bullosa of sheep. , 1974, New Zealand veterinary journal.

[26]  H. Mctaggart,et al.  Red foot disease of lambs , 1974, The Veterinary Record.

[27]  H. Leipold,et al.  Epitheliogenesis imperfecta in Holstein-Friesian calves. , 1973, The Canadian veterinary journal = La revue veterinaire canadienne.

[28]  B. Munday.  Epitheliogenesis imperfecta in lambs and kittens. , 1970, The British veterinary journal.

[29]  D. Murrell,et al.  Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. , 2008, Acta dermato-venereologica.

[30]  B. Bart,et al.  Epidermolysis bullosa and congenital localized absence of skin. , 1970, Archives of dermatology.