Ehlers‐Danlos—Like Syndrome in 2 Dogs: Clinical, Histologic, and Ultrastructural Findings

Paciello, Orlando; Lamagna, Francesco; Lamagna, Barbara; Papparella, Serenella

doi:10.1111/j.1939-165x.2003.tb00306.x

Cited by 36 publications

(45 citation statements)

References 9 publications

(13 reference statements)

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“…In the biopsy specimens from 13 horses on which electron microscopy was performed, randomness in collagen fibril orientation and variability of collagen fibril cross‐sections was consistent with previous reports of horses with this condition 3,4 . These findings are also consistent with ultra‐structural studies of EDS in humans 37 and EDS‐like diseases in other species 38–42 . Again, these diseases in other mammals, while causing skin tearing and fragility, affect skin over the entire body, showing none of the regional variation seen in the HERDA horses.…”

Section: Discussionsupporting

confidence: 87%

Hereditary equine regional dermal asthenia (‘hyperelastosis cutis’) in 50 horses: clinical, histological, immunohistological and ultrastructural findings

White¹,

Affolter

Bannasch

et al. 2004

Veterinary Dermatology

112

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Data on fifty horses with hereditary equine regional dermal asthenia (HERDA; "hyperelastosis cutis") were collected on clinical, histopathological, ultrastructural and immunohistological findings. All horses were Quarter horses or of Quarter horse ancestry. Pedigree evaluation strongly supported an autosomal recessive mode of inheritance. The most common lesions were seromas/haematomas, open wounds, sloughing skin, and loose, easily tented skin that did not return to its initial position. Definitive diagnosis could not be made via histopathology, although the presence of tightly grouped thin and shortened collagen fibres arranged in clusters in the deep dermis was suggestive of the disease. Trichrome, acid orcein-Giemsa and immunohistochemical stains for collagens I and III showed no consistent abnormalities compared to control horses; an increase in elastic fibres was not a consistent finding. Electron microscopy showed no abnormalities in the periodicity of the collagen bundles; neither orientation nor variation of cross-section diameter of the collagen fibrils differentiated control from affected horses. The diagnosis of HERDA relies on clinical presentation, but may be supported by suggestive (although not pathognomonic) histopathological lesions.

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Section: Discussionsupporting

confidence: 87%

Hereditary equine regional dermal asthenia (‘hyperelastosis cutis’) in 50 horses: clinical, histological, immunohistological and ultrastructural findings

White¹,

Affolter

Bannasch

et al. 2004

Veterinary Dermatology

112

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“…Most cases of EDS are presented before the age of 1 year although some may present at a later age. It cannot be determined whether the dog has previously been affected by the disease as it was not possible to get in contact with the previous owner of the dog.…”

Section: Discussionmentioning

confidence: 99%

Surgical and medical treatment of ocular disease in a dog with Ehlers–Danlos syndrome

Rasch¹

2017

Clinical Case Reports

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“…; Paciello et al . ). The Ehlers‐Danlos Syndrome is a group of genetically heterogeneous connective tissue disorders which result from mutations in genes which encode or modify collagens or other extracellular matrix proteins.…”

Section: Introductionmentioning

confidence: 97%

“…Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive heritable disorder of collagen which occurs in Quarter Horses and horses of Quarter Horse lineage (Brounts et al 2001;Tryon et al 2005). It is a form of Ehlers-Danlos Syndrome (EDS), which occurs in man and a variety of other species including dogs, cats, cattle and rabbits (Holbrook et al 1980;Minor et al 1983;Brown et al 1993;Miyake 1997;Sequeira et al 1999;Tajima et al 1999;Paciello et al 2003). The Ehlers-Danlos Syndrome is a group of genetically heterogeneous connective tissue disorders which result from mutations in genes which encode or modify collagens or other extracellular matrix proteins.…”

Section: Introductionmentioning

confidence: 99%

Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses: A review of clinical signs, genetics and research

Rashmir‐Raven

Spier

2015

Equine Veterinary Education

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Summary Hereditary equine regional dermal asthenia (HERDA) results from a genetic mutation which affects the skin and other tissues of Quarter Horses and horses with Quarter Horse lineage. The disease HERDA has an autosomal recessive mode of inheritance and has become a significant concern in the Quarter Horse industry due to the high frequency of heterozygote carriers. Affected homozygous horses appear normal at birth; however, within the first 2 years of life they usually acquire loose, hyperextensible skin and wounds which result in disfiguring scars either spontaneously or from minor trauma. Some severely affected horses also develop haematomas and seromas. Consequently, most affected horses are subjected to euthanasia at an early age. No treatment options other than palliative therapy currently exist. As part of a five panel test (http://www.aqha.com/News/News-Articles/2013/April/04292013-Genetic-Testing.aspx) the American Quarter Horse Association presently requires DNA testing for HERDA on all breeding stallions. There are currently no restrictions on registration of horses heterozygous or homozygous for the HERDA mutation. Due to the autosomal recessive nature of the disease, Quarter Horse mares and horses of all breeds from HERDA‐associated bloodlines should also be tested.

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Ehlers‐Danlos—Like Syndrome in 2 Dogs: Clinical, Histologic, and Ultrastructural Findings

Abstract: Although the primary defects underlying collagenopathies in animals are still unknown, analysis of the ultrastructural changes in collagen fibrils and clinical findings could facilitate better characterization of these disorders in dogs.

Cited by 36 publications

References 9 publications

Hereditary equine regional dermal asthenia (‘hyperelastosis cutis’) in 50 horses: clinical, histological, immunohistological and ultrastructural findings

Hereditary equine regional dermal asthenia (‘hyperelastosis cutis’) in 50 horses: clinical, histological, immunohistological and ultrastructural findings

Surgical and medical treatment of ocular disease in a dog with Ehlers–Danlos syndrome

Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses: A review of clinical signs, genetics and research

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