Dermatosparaxia em um ovino: achados clínicos, anatomopatológicos e moleculares

Authors

  • Mariana Correia Oliveira Setor de Anatomia Patológica (SAP), Instituto de Veterinária, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Seropédica, RJ, Brazil.
  • Bruna Patrícia Siqueiro Raimunda M.V., Hospital Veterinário, UFRRJ, Seropédica.
  • Carla Ribeiro Silveira Setor de Anatomia Patológica (SAP), Instituto de Veterinária, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Seropédica, RJ, Brazil.
  • Bruno Gonçalves de Souza M.V., Hospital Veterinário, UFRRJ, Seropédica.
  • Daniel Guimarães Ubiali Setor de Anatomia Patológica (SAP), Instituto de Veterinária, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Seropédica, RJ, Brazil.
  • Danilo Giorgi Abranches de Andrades Universidade Estadual Paulista (Unesp), Faculdade de Medicina Veterinária e Zootecnia, Botucatu, SP, Brazil.
  • José Paes de Oliveira-Filho Universidade Estadual Paulista (Unesp), Faculdade de Medicina Veterinária e Zootecnia, Botucatu, SP, Brazil.
  • Marilene de Farias Brito Setor de Anatomia Patológica (SAP), Instituto de Veterinária, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Seropédica, RJ, Brazil.

DOI:

https://doi.org/10.22456/1679-9216.86097

Abstract

Background: Dermatosparaxis is an autosomal recessive genetic disease that affects the connective tissue of animals. Collagen proteins form fibrillar structures that provide strength and structure to the extracellular matrix of tissues and organs in the body. Therefore, changes in collagen synthesis result in hyperextensibility and skin fragility. Similar to dermatosparaxis in animals, some cases of Ehlers-Danlos syndrome type VIIC have been reported in humans. The objective of this study was to describe the clinical, anatomopathological, and molecular findings of a case of dermatosparaxis in a sheep bred by crossing the Santa Inês and White Dorper breeds.

Case: A case of dermatosparaxis was reported in a 20-day-old female sheep, a cross between the Santa Inês and White Dorper breeds. The sheep exhibited hyperextensibility of the skin with minimal tension and increased joint volume shortly after birth. Because of clinical worsening and the poor prognosis of the disease, the owners opted for euthanasia. The necropsy revealed large ulcerated areas in several parts of the body, including the cervical, sternal, scapular, and thoracic regions, and the inner and outer thighs. The skin was extremely easy to be removed during the necropsy and the use of a scalpel was not necessary. Extensive areas of hemorrhage were observed in the subcutaneous tissue and small intestine. The histopathological findings of the skin lesions evidenced the presence of dermatosparaxis, particularly regarding the disorganization of collagen fibers. The tests involving Masson’s trichrome staining, picrosirius red staining, and Gomori’s trichrome staining under polarized light evidence of collagen fiber dysplasia.

Discussion: The diagnosis of dermatosparaxis in this study was based on clinical, anatomopathological, and molecular analysis. Molecular diagnosis was confirmed by identification of SNP c.421G>T on the ADAMTS2 gene in both the mother and the sheep under study. In humans, in addition to hyperextensibility and skin fragility, other rare clinical signs include ligamentous laxity, bone abnormalities, vascular abnormalities, uterine rupture, ocular abnormalities, and extensive areas of hemorrhage in the intestine. In this case, the humeral-radial-ulnar joints of both thoracic limbs were substantially enlarged and, when sectioned, a moderate amount of dark yellow fluid was released. Dermatosparaxis is well documented in the White Dorper sheep breed. In the present study, the genetic test revealed that the mother (Santa Inês breed) was heterozygous and phenotypically normal. All the rams in the animal herd (White Dorper breed) were phenotypically normal. Extensive hemorrhage in organs of the abdominal cavity and the high likelihood of skin rupture have been reported in other species that are affected by the disease. The histopathological findings of cutaneous lesions in this sheep agree with the descriptions in the literature on the disorganization of collagen fibers. The tests involving Masson’s trichrome staining, Gomori’s trichrome, and picrosirius red staining under polarized light were crucial for providing evidence of collagen fiber dysplasia. Even when phenotypically normal, the heterozygous sheep in the herd can produce recessive homozygous animals, which may be clinically affected, mainly, if there is a history of uncontrolled crossing in the herd.

Downloads

Download data is not yet available.

References

Andrade S.F., Tostes R.A., Sanches O., Melchert, A., Nogueira R.M.B. & Valente S.F. 2008. Astenia cutânea em gato (Relato de caso). Ciência Animal Brasileira. 9(2): 524-528.

Andrade D.G.A., Pavan L.F., Amorim R.M., Chiacchio S.B., Laufer-Amorim R., Gonçalves R.C., Borges A.S. & Oliveira-Filho J.P. 2014. Aspectos clínicos, histopatológicos e moleculares da dermatosparaxia em ovinos White Dorper. Pesquisa Veterinária Brasileira. 34(5): 442-448.

Andrade D.G.A., Dalanezi F.M., Trecenti A.S., Cunha P.H.J., Borges A.S. & Oliveira-Filho J.P. 2016. Prevalence study of SNP c.421G>T in the ADAMTS2 gene responsible for dermatosparaxis in White Dorper sheep in Brazil. Pesquisa Veterinária Brasileira. 36(2): 73-76.

Badial P.R., Rashmir-Raven A.M., Cagnini D.Q., Oliveira-Filho J.P., Cooley A.J., Cunha P.H.J., Kitchell B.E., Conceição L.G., Mochal C.A. & Borges A.S. 2013. Marjolin’s ulcer in two horses with hereditary equine regional dermal asthenia. Journal Equine Veterinary Science. 33: 515-522.

Barnett K.C. & Cottrell B.D. 1987. Ehlers-Danlos syndrome in a dog: ocular, cutaneous and particular abnormalities. Journal Small Animal Practical. 28: 941-946.

Bavinton J.H., Peters D.E. & Ramshaw J.A.M. 1985. A morphologic study of a mild form of ovine dermatosparaxia.

The Journal of Investigative Dermatology. 84: 391-395.

Benitah N., Matousek J.L., Barnes R.F., Lichtensteiger C.A. & Campbell K.L. 2004. Diaphragmatic and perineal hernias associated with cutaneous asthenia in a cat. Journal of the American Veterinary Medical Association. 224(5): 706-709.

Borges A.S., Conceição L.G, Alves A.L.G., Fabris V.E. & Pessoa M.A. 2005. Hereditary equine regional dermal asthenia in three related Quarter horses in Brazil. Veterinary Dermatology. 16: 125-130.

Carty C.I., Lee A.M., Wienandt N.A.E., Stevens E.L., Alves D.A., Brownw J.A., Bryan J., Ryan E.G. & Cassidy J.P. 2016. Dermatosparaxis in two Limousin calves. Irish Veterinary Journal. 69: 15.

Damé M.C.F., Riet-Correa F. & Schild A.L. 2013. Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil. Pesquisa Veterinária Brasileira. 33(7): 831-839.

Lapière C.M., Lenaers A. & Kohn L.D. 1971. Procollagen peptidase: an enzyme excising the coordination peptides of procollagen. Proceedings of the National Academy of Sciences of the United States of America. 68(12): 3054-3058.

Mauldin E.A. & Peters-Kennedy J. 2016. Sistema tegumentar. In: Jubb Kennedy and Palmer´s. Pathology of Domestic Animals. 6th edn. v.1. Ontario: Elsevier, pp.543-545.

Monteagudo L.V., Ferrer L.M., Catalan-Insa E., Savva D., McGuffin L.J. & Tejedor M.T. 2015. In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis. Veterinary Dermatology. 26:49-e16.

Paciello O., Lamagna F., Lamagna B. & Papparella S. 2003. Ehlers-Danlos - like syndrome in 2 dogs: clinical, histologic and ultrastructural findings. Veterinary Clinical Pathology. 32(1): 13-18.

Paepe A. & Malfait F. 2012. The Ehlers-Danlos syndrome, a disorder with many faces. Clinical Genetic. 82: 1-11.

Seo S.H., Choi M. & Hyun C. 2016. Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat. Korean Journal Veterinary Research. 56(1): 53-55.

Silva A.P.C., Mol J.P.S., Carvalho Junior C.A., Paixão T.A. & Santos R.L. 2015. Dermatosparaxis in two White Doper lambs in Brazil: case report. Arquivo Brasileiro de Medicina Veterinária e Zootecnia. 67(3): 741-746.

Vaatstra B.L., Halliday W.D. & Waropastrakul S. 2011. Dermatosparaxis in two White Dorper lambs. New Zealand

Veterinary Journal. 59(5): 258-260.

Van Halderen A. & Green J.R. 1988. Dermatosparaxis in White Dorper sheep. Journal of the South African Veterinary Association. 59(1): 45.

Zhou H., Hickford J.G.H. & Fang Q. 2012. A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. Animal Genetics. 43(4): 471-473.

White S.D., Affolter V.K., Bannasch D.L., Schultheiss P.C., Hamar D.W., Chapman P.L., Naydan D., Spier S.J., Rosychuk R.A.W., Rees C., Veneklasen G.O., Martin A., Bevier D., Jackson H.A., Bettenay S., Matousek J., Campbell K.L. & Jhrke P.J. 2004. Hereditary equine regional dermal asthenia (“Hyperelastosis Cutis”) in 50 horses: clinical, histological, ultrastructural and immunohistological findings. VeterinaryDermatology. 15(4): 207-217.

Published

2017-01-01

How to Cite

Oliveira, M. C., Raimunda, B. P. S., Silveira, C. R., de Souza, B. G., Ubiali, D. G., de Andrades, D. G. A., de Oliveira-Filho, J. P., & Brito, M. de F. (2017). Dermatosparaxia em um ovino: achados clínicos, anatomopatológicos e moleculares. Acta Scientiae Veterinariae, 45, 6. https://doi.org/10.22456/1679-9216.86097

Most read articles by the same author(s)