Cutaneous asthenia (Ehlers–Danlos-like syndrome) of Burmese cats

Hansen, Naomi; Foster, S F; Burrows, Arthur; Mackie, John; Malík, Richard

doi:10.1177/1098612x15610683

Cited by 25 publications

(25 citation statements)

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“…Young age, clinical features, the SEI and histopathologic results in our case were well compatible with a congenital collagen defect. One study found histopathological features of feline cutaneous asthenia included alterations of collagen fibers in arrangement and length (i.e., shortening, disarray, curling, and uneven size) and disorganization of the collagen fibrils [2]. In this case of cat, similar histological findings were all clearly noticed.…”

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confidence: 64%

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Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat

Seo¹,

Choi²,

Hyun³

2016

Korean Journal of Veterinary Research

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: A 1-year-old Korean domestic short-haired cat presented with skin hyperextensibility and a severely macerated wound on the skin of the dorsal part of the neck. Diagnostic studies including histopathology and skin extensibility index revealed congenital cutaneous asthenia (Ehlers-Danlos syndrome). In this cat, the skin wounds and defects were successfully managed with standard wound management and cosmetic surgery. Although skin hyperextensibility is persistent, the cat has lived well without other complications to date. To the best of our knowledge, this is the first report of cutaneous asthenia in a cat in Korea.Keywords : cat, cutaneous asthenia, Ehlers-Danlos syndrome, joint laxity, skin hyperextensibility Ehlers-Danlos syndrome (EDS) is a type of inherited cutaneous asthenia, which is caused by collagen production [4]. Although EDS in cats has rarely been reported, inherited EDS has been described in the Himalayan breed, which is similar EDS VIIc in man and dermatosporaxis in calves and sheep [1,10]. Although the EDS is not fatal in cats, it often causes hanging folds of skin, extensive scarring, joint laxity, delayed wound healing with hematoma and hygroma formation [11]. Although the diagnosis is challenging, clinical signs and histopathologic studies of the collagen structure are important to identify this disease. This case study described a rare case of EDS in a Korean domestic short-haired cat.A 1-year-old castrated male Korean domestic short-haired cat weighing 4.2 kg, was presented with severe macerated wound on the skin of dorsal part of neck ( Fig. 1A and B). The cat had medical history of skin maceration by selfscratching and frequent grooming on the abdomen and hind limb. On the physical examination, the skin lesion was consisted of 8.5 × 5.5 cm skin defects by ulcerative wound on the dorsal part of neck ( Fig. 1A and B). The margin of defected skin was necrotized and ulcerative. Skin elasticity was markedly increased (hyperextensibility) on the lesion (Fig. 1). Skin in other body part was also thin and was hyperextensible and fragile ( Fig. 2C and D). Complete blood cell count revealed no particular abnormalities except moderate polycythemia (red blood cell 10.45 M/µL; reference range, 5.5-8.5 M/uL; hematocrit 57.3%; reference range, 37-55%). Serum biochemistry found no particular abnormalities except increased glucose (151 mg/dL; reference range, 60-120 mg/ dL) and decreased albumin (2.7 g/dL; reference range, 3.1-4.1 g/dL).Emergency surgery for covering skin defects of the neck was performed ( Fig. 2A and B). After removal of necrotized wound margin, the skin defected area was covered by extending skin nearby with anchored suture ( Fig. 2A and B). After installing wound drainage, bacterial culture with antibi-*Corresponding author Tel: +82-33-250-8681, Fax: +82-33-244-2367 E-mail: hyun5188@kangwon.ac.kr Fig. 1. Skin lesion of this case. (A and B) The skin lesion was consisted of 8.5 × 5.5 cm skin defects by ulcerative wound on the dorsal part of neck. The margin of defected skin was...

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confidence: 64%

“…Two forms of feline congenital cutaneous asthenia have been found [2]. In the autosomal dominant form of the disease, type I collagen was poorly packaged and thus it caused skin hyperextensibility and joint hypermobility in affected cats.…”

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confidence: 99%

Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat

Seo¹,

Choi²,

Hyun³

2016

Korean Journal of Veterinary Research

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“…The skin extensibility index, according to Hansen et al . (), was 27%. Some of the previous lacerations had slowly healed leaving shiny alopecic scars.…”

mentioning

confidence: 87%

“…More recently, EDS has also been observed in several Burmese cats and it was suggested that an autosomal recessive form of EDS may be segregating in this breed (Hansen et al . ).…”

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confidence: 97%

A frameshift variant in the COL5A1 gene in a cat with Ehlers‐Danlos syndrome

et al. 2018

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Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defective collagen synthesis or incorrect assembly of the collagen triple helical structure. EDS is characterised by joint hypermobility, skin hyperextensibility, abnormal scarring, poor wound healing and tissue friability. Human EDS may be caused by variants in several different genes including COL5A1, which encodes the collagen type V alpha 1 chain. For the present study we investigated a 1.5-year-old, spayed female, domestic shorthair cat with EDS. The affected cat showed multiple recurrent skin tears, hyperextensibility of the skin and joint abnormalities. We obtained whole genome sequencing data from the affected cat and searched for variants in candidate genes known to cause EDS. We detected a heterozygous single base-pair deletion in exon 43 of the COL5A1 gene, namely c.3420delG. The deletion was predicted to result in a frameshift and premature stop codon: p.(Leu1141SerfsTer134). Sanger sequencing confirmed that the variant was present in the affected cat and absent from 103 unaffected cats from different breeds. The variant was also absent from a Burmese cat with EDS. Based on knowledge about the functional impact of COL5A1 variants in other species, COL5A1: c.3420delG represents a compelling candidate causative variant for the observed EDS in the affected cat.

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“…The Burmese is now one of the most genetically inbred cat populations worldwide, 3 and has been over-represented in a number of conditions, including frontonasal dysplasia (Burmese head defect), feline orofacial pain syndrome, 4 hypokalaemic polymyopathy, 5 diabetes mellitus, 6 , 7 cutaneous asthaenia, 8 endocardial fibroelastosis, 9 primary glaucoma 10 and GM2 gangliosidosis. 11 Genetic tests are available for GM2 gangliosidosis, 11 Burmese hypokalaemia 5 and Burmese head defect.…”

Section: Introductionmentioning

confidence: 99%

Supernumerary maxillary fourth premolar teeth in five related Burmese cats

Emslie¹,

Tutt²

2020

Journal of Feline Medicine and Surgery Open Reports

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Case series summary This article reports a case series of five Burmese cats with supernumerary teeth. All included cases displayed either unilateral or bilateral supernumerary maxillary fourth premolar teeth. Two cases also displayed supernumerary mandibular fourth premolar teeth, and in one case bilateral supernumerary maxillary third incisor teeth were found. Examination of the pedigrees of the affected cats revealed that all five cats were related with one common ancestor. All patients in this case series were successfully treated. Relevance and novel information Supernumerary maxillary fourth premolar teeth in cats have not been reported previously in the literature. As all five cats in this case series were shown to be related, supernumerary maxillary fourth premolar teeth may be yet another heritable health condition affecting the Burmese breed. Therefore, Burmese breeders should endeavour to reduce the incidence of supernumerary teeth within the breed by having animals examined by a veterinary dentist prior to breeding, and neutering affected, as well as related, individuals. Burmese cat owners must be made aware of the condition in order to institute early evaluation, diagnosis and treatment.

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Cutaneous asthenia (Ehlers–Danlos-like syndrome) of Burmese cats

Abstract: The clinical features of this genetic disease of Burmese cats are reviewed, especially in relation to the postulated 'vasculopathy' that gives rise to characteristic skin lesions. Long term management of this condition is discussed briefly.

Cited by 25 publications

References 18 publications

Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat

Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat

A frameshift variant in the COL5A1 gene in a cat with Ehlers‐Danlos syndrome

Supernumerary maxillary fourth premolar teeth in five related Burmese cats

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