Ehlers-Danlos syndrome in a crossbreed cat
ABSTRACT: The Ehlers-Danlos syndrome (EDS) consists of a group of diseases characterized by defective collagen production or failure in its organization, resulting in changes in the strength and extensibility of connective tissue. This report describes the dermatological and histological findings ob...
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| Format: | Article |
| Language: | English |
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Universidade Federal de Santa Maria
2022-04-01
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| Series: | Ciência Rural |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782022001100601&tlng=en |
| _version_ | 1811292045251182592 |
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| author | Silvana Marques Caramalac Simone Marques Caramalac Carolynne Ferreira Barbosa Julia Franco Ferreira Jose Paes de Oliveira-Filho Alexandre Secorun Borges Mariana Isa Poci Palumbo |
| author_facet | Silvana Marques Caramalac Simone Marques Caramalac Carolynne Ferreira Barbosa Julia Franco Ferreira Jose Paes de Oliveira-Filho Alexandre Secorun Borges Mariana Isa Poci Palumbo |
| author_sort | Silvana Marques Caramalac |
| collection | DOAJ |
| description | ABSTRACT: The Ehlers-Danlos syndrome (EDS) consists of a group of diseases characterized by defective collagen production or failure in its organization, resulting in changes in the strength and extensibility of connective tissue. This report describes the dermatological and histological findings observed in a 3-month-old crossbreed cat with rupture and detachment of skin in the thoracic limb and rupture of the skin in the cervical region. Upon dermatological examination, the cat presented fragile and hyperextensible skin in the cervical region and a skin extensibility index of 21%. Histopathological evaluation of the skin specimens revealed evident disorganization of collagen bundles in dermis and in the Masson’s trichrome staining, follicular dysplasia was found. The presumptive diagnosis of EDS was made based on the clinical and histopathological findings. Sanger sequencing did not detect any mutated alleles for the c.3420delG mutation in COL5A1 gene, which was an autosomal dominant mutation previously been associated with Ehlers-Danlos syndrome in cats. The absence of this mutation in the reported cat suggests that other mutation may also be responsible for the development of cutaneous asthenia in this or maybe other genes related to collagen metabolism. |
| first_indexed | 2024-04-13T04:39:33Z |
| format | Article |
| id | doaj.art-5ba9d4c4a9bb4140985a09a043e5e5fd |
| institution | Directory Open Access Journal |
| issn | 1678-4596 |
| language | English |
| last_indexed | 2024-04-13T04:39:33Z |
| publishDate | 2022-04-01 |
| publisher | Universidade Federal de Santa Maria |
| record_format | Article |
| series | Ciência Rural |
| spelling | doaj.art-5ba9d4c4a9bb4140985a09a043e5e5fd2022-12-22T03:02:02ZengUniversidade Federal de Santa MariaCiência Rural1678-45962022-04-01521110.1590/0103-8478cr20210160Ehlers-Danlos syndrome in a crossbreed catSilvana Marques Caramalachttps://orcid.org/0000-0001-9520-4628Simone Marques Caramalachttps://orcid.org/0000-0002-3964-1601Carolynne Ferreira Barbosahttps://orcid.org/0000-0002-7792-9286Julia Franco Ferreirahttps://orcid.org/0000-0002-3517-2676Jose Paes de Oliveira-Filhohttps://orcid.org/0000-0001-9890-2640Alexandre Secorun Borgeshttps://orcid.org/0000-0001-6256-8089Mariana Isa Poci Palumbohttps://orcid.org/0000-0002-0919-5057ABSTRACT: The Ehlers-Danlos syndrome (EDS) consists of a group of diseases characterized by defective collagen production or failure in its organization, resulting in changes in the strength and extensibility of connective tissue. This report describes the dermatological and histological findings observed in a 3-month-old crossbreed cat with rupture and detachment of skin in the thoracic limb and rupture of the skin in the cervical region. Upon dermatological examination, the cat presented fragile and hyperextensible skin in the cervical region and a skin extensibility index of 21%. Histopathological evaluation of the skin specimens revealed evident disorganization of collagen bundles in dermis and in the Masson’s trichrome staining, follicular dysplasia was found. The presumptive diagnosis of EDS was made based on the clinical and histopathological findings. Sanger sequencing did not detect any mutated alleles for the c.3420delG mutation in COL5A1 gene, which was an autosomal dominant mutation previously been associated with Ehlers-Danlos syndrome in cats. The absence of this mutation in the reported cat suggests that other mutation may also be responsible for the development of cutaneous asthenia in this or maybe other genes related to collagen metabolism.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782022001100601&tlng=encollagendermatologylacerationmutationsequencing. |
| spellingShingle | Silvana Marques Caramalac Simone Marques Caramalac Carolynne Ferreira Barbosa Julia Franco Ferreira Jose Paes de Oliveira-Filho Alexandre Secorun Borges Mariana Isa Poci Palumbo Ehlers-Danlos syndrome in a crossbreed cat Ciência Rural collagen dermatology laceration mutation sequencing. |
| title | Ehlers-Danlos syndrome in a crossbreed cat |
| title_full | Ehlers-Danlos syndrome in a crossbreed cat |
| title_fullStr | Ehlers-Danlos syndrome in a crossbreed cat |
| title_full_unstemmed | Ehlers-Danlos syndrome in a crossbreed cat |
| title_short | Ehlers-Danlos syndrome in a crossbreed cat |
| title_sort | ehlers danlos syndrome in a crossbreed cat |
| topic | collagen dermatology laceration mutation sequencing. |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782022001100601&tlng=en |
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