OMIA 000327-9685 : Ehlers-Danlos syndrome in Felis catus

In other species: dog , American mink , rabbit , sheep , horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120150 , 130000 , 130010 , 130020 , 130050 , 130060 , 130070 , 130080 , 130090 , 147900 , 225310 , 225320 , 225400 , 225410 , 229200 , 305200

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Also known as cutaneous asthenia (CA) or hyperelastosis cutis (HC). Some animals are born with easily extendible and very fragile skin. Severe lacerations result from the slightest scratch. The basic cause of these severe clinical signs is the presence of abnormal collagen in the skin. There are several genes encoding peptides that form procollagen molecules. There are also several genes encoding enzymes that remove excess amino acids from each end of the procollagen molecules, creating mature collagen. Mutations in any of these genes can give rise to Ehlers-Danlos syndrome. In general, mutations in collagen structural genes result in dominant forms of the disorder, because heterozygotes produce 50 per cent abnormal collagen molecules. In contrast, mutations in the genes for the enzymes that "process" procollagen generally result in recessive forms of the disorder, because the 50 per cent of normal enzyme activity that occurs in heterozygotes is sufficient to "process" all procollagen molecules. In humans, a detailed classification of the different types of Ehlers-Danlos syndrome has been made, corresponding to mutations in the different genes involved. In animals, most occurrences of the disorder have to be lumped together because the detailed studies necessary for classification have not yet been conducted.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2015 Hansen, N., Foster, S.F., Burrows, A.K., Mackie, J., Malik, R. :
Cutaneous asthenia (Ehlers-Danlos-like syndrome) of Burmese cats. J Feline Med Surg 17:954-63, 2015. Pubmed reference: 26486982. DOI: 10.1177/1098612X15610683.
2014 Halper, J. :
Connective tissue disorders in domestic animals. Adv Exp Med Biol 802:231-40, 2014. Pubmed reference: 24443030. DOI: 10.1007/978-94-007-7893-1_14.
Weingart, , Hau├čer, , Kershaw, , Kohn, :
[Ehlers-Danlos like syndrome in a cat]. Schweiz Arch Tierheilkd 156:543-8, 2014. Pubmed reference: 25359116. DOI: 10.1024/0036-7281/a000645.
2008 Smids, M.Y. :
[Experience with a cat with cutis asthenia (Ehlers-Danlos syndrome]. Tijdschr Diergeneeskd 133:612-4, 2008. Pubmed reference: 18767302.
2004 Benitah, N., Matousek, J.L., Barnes, R.F., Lichtensteiger, C.A., Campbell, K.L. :
Diaphragmatic and perineal hernias associated with cutaneous asthenia in a cat. J Am Vet Med Assoc 224:706-9, 698, 2004. Pubmed reference: 15002808.
1999 Sequeira, J.L., Rocha, N.S., Bandarra, E.P., Figueiredo, L.M.A., Eugenio, F.R. :
Collagen dysplasia (cutaneous asthenia) in a cat Veterinary Pathology 36:603-606, 1999. Pubmed reference: 10568442.
1993 White, S.D. :
Congenital and genetic skin disease. Tijdschr Diergeneeskd 118 Suppl 1:53S-57S, 1993. Pubmed reference: 8480320.
1992 Plotnick, A., Brunt, J.E., Reitz, B. :
Cutaneous Asthenia in a Cat Feline Practice 20:9-12, 1992.
1989 Freeman, L.J., Hegreberg, G.A., Robinette, J.D. :
Cutaneous wound healing in Ehlers-Danlos syndrome. Vet Surg 18:88-96, 1989. Pubmed reference: 2728341.
Freeman, L.J., Hegreberg, G.A., Robinette, J.D., Kimbrell, J.T. :
Biomechanical properties of skin and wounds in Ehlers-Danlos syndrome. Vet Surg 18:97-102, 1989. Pubmed reference: 2728342.
1987 Freeman, L.J., Hegreberg, G.A., Robinette, J.D. :
Ehlers-Danlos syndrome in dogs and cats. Semin Vet Med Surg (Small Anim) 2:221-7, 1987. Pubmed reference: 3423466.
1986 Verweij, C.G., van Zuylen, A.L. :
[Cutaneous asthenia, a congenital skin disease in a Burmese cat]. Tijdschr Diergeneeskd 111:244-6, 1986. Pubmed reference: 3961790.
1980 Collier, L.L., Leathers, C.W., Counts, D.F. :
A clinical description of dermatosparaxis in a Himalayan cat Feline Practice 10:25-36, 1980.
Counts, D.F., Byers, P.H., Holbrook, K.A., Hegreberg, G.A. :
Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen Journal of Investigative Dermatology 74:96-99, 1980. Pubmed reference: 7351504.
Holbrook, K.A., Byers, P.H., Counts, D.F., Hegreberg, G.A. :
Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen Journal of Investigative Dermatology 74:100-104, 1980. Pubmed reference: 7351497.
1977 Patterson, D.F., Minor, R.R. :
Hereditary fragility and hyperextensibility of the skin of cats. A defect in collagen fibrillogenesis. Lab Invest 37:170-9, 1977. Pubmed reference: 881780.
1974 Scott, D.V. :
Cutaneous asthenia in a cat, resembling Ehlers-Danlos syndrome in man. Vet Med Small Anim Clin 69:1256-8, 1974. Pubmed reference: 4496767.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Tosso Leeb on 28 May 2018