Autosomal recessive inheritance of cutaneous asthenia in a dog - case report
DOI:
https://doi.org/10.5433/1679-0359.2020v41n2p731Keywords:
Collagen, Ehlers-Danlos Syndrome, Wounds.Abstract
Cutaneous asthenia (CA) or Ehlers-Danlos Syndrome, in dogs, is a rare hereditary syndrome caused by autosomal dominant inheritance that causes collagen synthesis failure and leads to hyperextensibility and cutaneous fragility. This report describes a clinical case of canine CA of hereditary recessive origin, hitherto proven for other species, in an animal born from inbreeding healthy parents. A one-year-old female Maltese dog received clinical and surgical care for a cutaneous wound after a hygienic bath. The clinical history revealed the occurrence of other injuries that were caused by minor trauma and the consanguinity of the patient. During wound cleaning, the trichotomy and removal of an adhesive tape that was fixed to the skin generated new lacerations, which led to clinical suspicion of CA. CA was confirmed by calculating the cutaneous extensibility index (CEI), which was 22%, higher than the normal limit for the species (14.5%). The skin biopsy confirmed the clinical diagnosis, and the wound of the animal was treated routinely and healed clinically. Both dominant and recessive patterns have been well documented in cats; however, in dogs, only the dominant form has been reported in the literature. Our findings demonstrate that canine CA may result from autosomal recessive inheritance, and CA must be considered during diagnostic clinical approaches and breeding selections.References
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Minor, R. R., Lein, D. H., Patterson, D. F., Krook, L., Porter, T. G., & Kane, A. C. (1983). Defects in collagen fibrillogenesis causing hyperextensible, fragile skin in dogs. Journal of the American Veterinary Medical Association, 182(2) 142-148.
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. 10.1111/j.1939-165X.2003.tb00306.x
Patterson, D., & Minor, R. (1977). Hereditary fragility and hyperextensibility of the skin of cats. A defect in collagen fibrillogenesis. Laboratory Investigation; a Journal of Technical Methods and Pathology, 37(2), 170-179.
Woods, C. G., Cox, J., Springell, K., Hampshire, D. J., Mohamed, M. D., Mckibbin, M., Stern, R., Raymond, F. L., Sandford, R., Sharif, S. M. (2006). Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. The American Journal of Human Genetics, 78(5), 889-896. 10.1086/503875
Bohling, M. W., & Henderson, R. A. (2006). Differences in cutaneous wound healing between dogs and cats. The Veterinary Clinics of North America. Small Animal Practice, 36(4), 687-692. doi: 10.1016/j.cvsm.2006.02.001
Dokuzeylül, B., Altun, E. D., Özdogan, T. H., Bozkurt, H. H., Arun, S. S., & Or, M. E. (2013). Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat. Turkish Journal of Veterinary and Animal Sciences, 37(2), 245-249. doi: 10.3906/vet-1203-64
Ducatelle, R., Hoorens, J., Charlier, G., Cornelissen, F., & Calus, A. (1987). A morphometric classification of dermatosparaxis in the dog and cat. Vlaams Diergeneeskundig Tijdschrift (Belgium), 56(2), 107-117.
Halper, J. (2014). Connective tissue disorders in domestic animals. Advances in Experimental Medicine and Biology, 802, 231-240. doi: 10.1007/978-94-007-7893-1_14
Hansen, N., Foster, S. F., Burrows, A. K., Mackie, J., & Malik, R. (2015). Cutaneous asthenia (Ehlers-Danlos-like syndrome) of Burmese cats. Journal of Feline Medicine and Surgery, 17(11) 954-963. doi: 10.1177/1098612x15610683
Hegreberg, G. A., Padgett, G. A., Gorham, J. R., & Henson, J. B. (1969). A connective tissue disease of dogs and mink resembling the Ehlers-Danlos syndrome of man: II. Mode of inheritance. The Journal of Heredity, 60, 249-254. doi: 10.1093/oxfordjournals.jhered.a107983
Menezes, L. B. de, Moraes Faria, A. de, Paulo, N. M., Fleury, L. F. F., & Brito, M. S. de. (2007). Hérnia perineal associada à colagenopatia em uma cadela. Acta Scientiae Veterinariae, 35(3), 377-379.
Minor, R. R., Lein, D. H., Patterson, D. F., Krook, L., Porter, T. G., & Kane, A. C. (1983). Defects in collagen fibrillogenesis causing hyperextensible, fragile skin in dogs. Journal of the American Veterinary Medical Association, 182(2) 142-148.
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. 10.1111/j.1939-165X.2003.tb00306.x
Patterson, D., & Minor, R. (1977). Hereditary fragility and hyperextensibility of the skin of cats. A defect in collagen fibrillogenesis. Laboratory Investigation; a Journal of Technical Methods and Pathology, 37(2), 170-179.
Woods, C. G., Cox, J., Springell, K., Hampshire, D. J., Mohamed, M. D., Mckibbin, M., Stern, R., Raymond, F. L., Sandford, R., Sharif, S. M. (2006). Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. The American Journal of Human Genetics, 78(5), 889-896. 10.1086/503875
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2020-03-06
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Saigali, P. H. F., Jardim, P. H. de A., & Rondon, E. S. (2020). Autosomal recessive inheritance of cutaneous asthenia in a dog - case report. Semina: Ciências Agrárias, 41(2), 731–736. https://doi.org/10.5433/1679-0359.2020v41n2p731
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