Cutaneous Asthenia (Cutis Hyperelastica) of Dogs

Ward, General William E.

doi:10.1111/j.1751-0813.1970.tb15937.x

Cited by 2 publications

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“…The most consistent and prominent clinical finding, observed in all eight dogs with the dermatosparactic EDS subtype was fragile skin as evidenced by numerous atrophic scars, lacerations at various stages of healing, and subcutaneous hematomas or seromas. Similar lesions have often been described in previous reports of canine EDS [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 18 , 19 , 21 , 22 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 ]. Thus, this feature does not distinguish dermatosparactic EDS from other common canine EDS subtypes.…”

Section: Discussionsupporting

confidence: 85%

“…The clinical and genetic heterogeneity in canine EDS is likely to be as extensive as it is in the human disease complex. Although canine EDS has been described in numerous publications [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 ], the accumulated knowledge has been too sparse and fragmented to support the classification of EDS into distinct subtypes in dogs. Thus, it is not currently possible to determine which information from previously published reports in dogs is most applicable to new cases.…”

Section: Introductionmentioning

confidence: 99%

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Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

Jaffey

Bullock

Guo

et al. 2022

Genes

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Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers–Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility and caused by biallelic ADAMTS2 mutations. We report two novel, ADAMTS2 variants in DNA from EDS-affected dogs. Separate whole-genome sequences from a Pit Bull Terrier and an Alapaha Blue Blood Bulldog each contained a rare, homozygous variant (11:2280117delC, CanFam3.1), predicted to produce a frameshift in the transcript from the first coding ADAMTS2 exon (c.10delC) and a severely truncated protein product, p.(Pro4ArgfsTer175). The clinical features of these dogs and 4 others with the same homozygous deletion included multifocal wounds, atrophic scars, joint hypermobility, narrowed palpebral fissures, skin hyperextensibility, and joint-associated swellings. Due to severe skin fragility, the owners of all 6 dogs elected euthanasia before the dogs reached 13 weeks of age. Cross sections of collagen fibrils in post-mortem dermal tissues from 2 of these dogs showed hieroglyphic-like figures similar to those from cases of severe dermatosparaxis in other species. The whole-genome sequence from an adult Catahoula Leopard Dog contained a homozygous ADAMTS2 missense mutation, [11:2491238G>A; p.(Arg966His)]. This dog exhibited multifocal wounds, atrophic scars, and joint hypermobility, but has survived for at least 9 years. This report expands the spectrum of clinical features of the canine dermatosparactic subtype of EDS and illustrates the potential utility of subclassifying canine EDS by the identity of gene harboring the causal variant.

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Section: Discussionsupporting

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

Jaffey

Bullock

Guo

et al. 2022

Genes

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Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers‐Danlos syndrome

Bullock,

Jaffey,

Cohn

et al. 2024

Veterinary Internal Medicne

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BackgroundHuman patients with Ehlers‐Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common subtype in people but is poorly characterized in dogs.ObjectiveDescribe likely causal COL5A1 variants in dogs with classical EDS, summarize clinical histories, discuss potential disease mechanisms, and draw conclusions about disease prognosis.AnimalsSeven client‐owned dogs that exhibited clinical signs of classical EDS.MethodsClinical information was recorded from medical records and communication with attending veterinarians and dog owners. To identify potential causal gene sequence variants whole‐genome sequence analyses (n = 6) or Sanger sequencing (n = 1) were performed on DNA isolated from the probands. Pathological abnormalities in skin biopsy samples were assessed using histology and electron microscopy in 3 dogs.ResultsSix distinct heterozygous COL5A1 sequence variants were identified. The most common clinical signs included fragile skin (n = 7), hyperextensible skin (n = 7), joint hypermobility (n = 6), and atrophic scars (n = 5). The median age at last follow‐up or death was 12 years (range, 6.5‐14 years). Ultrastructural abnormalities in dermal collagen differed among dogs with different COL5A1 variants.Conclusion and Clinical ImportanceWe describe the genotypic and phenotypic spectrum of the classical subtype of EDS by identifying 6 novel COL5A1 variants in conjunction with detailed clinical histories that included long‐term follow‐up information in 7 dogs.

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Cutaneous Asthenia (Cutis Hyperelastica) of Dogs

Cited by 2 publications

References 0 publications

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome

Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers‐Danlos syndrome

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