Hereditary Equine Regional Dermal Asthenia homozygote adult working horse with mild signs – A Case Report.
Abstract: Hereditary Equine Regional Dermal Asthenia (HERDA) is an autosomal recessive condition present in the American Quarter Horse and other related breeds. Resulting from a mutation in the peptidyl-prolyl cis-trans isomerase B (PPIB) gene, HERDA is homologous to Ehlers-Danlos syndrome in humans. Characterized by fragile, hyperelastic, skin, HERDA affected horses often present first with slow-healing wounds usually on the dorsum, and resulting in atrophic scars, seromas, and ulcers. As there is no treatment for the condition affected horses are typically reported to be unrideable, and if persistent wounds are sufficiently severe, may require euthanasia. This case report describes clinical presentation and genetic diagnostics of HERDA in an 8-year-old horse with notably mild clinical signs, previously undiagnosed. On recommendation from the referring veterinarian, the horse owners pursued genetic diagnostics for HERDA following development of painful dorsal skin lesions under the saddle area during a riding clinic. The individual was confirmed homozygous for HERDA c.115G>A missense mutation in the PPIB gene by commercial testing service (Etalon Diagnostics Inc.). Further objective studies on the severity and clinical presentation of HERDA are necessary to evaluate complex elements of this disease. Furthermore, mildly affected individuals may be underdiagnosed as a result of not demonstrating the clinical signs that commonly encourage genetic testing.
Copyright © 2021. Published by Elsevier Inc.
Publication Date: 2021-09-06 PubMed ID: 34670706DOI: 10.1016/j.jevs.2021.103756Google Scholar: Lookup
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Summary
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The research article is about a case report of an adult working horse diagnosed with Hereditary Equine Regional Dermal Asthenia (HERDA), a genetic skin disorder, presenting notably mild symptoms than usually observed in affected horses.
Introduction to HERDA
- Hereditary Equine Regional Dermal Asthenia (HERDA) is a genetic condition that affects certain horse breeds like the American Quarter Horse.
- This disorder is analogous to Ehlers-Danlos syndrome in humans.
- HERDA results from a mutation in the peptidyl-prolyl cis-trans isomerase B (PPIB) gene and is characterized by fragile, hyperelastic skin.
- Horses affected by HERDA first display symptoms such as slow-healing wounds, typically on the back, which later result in atrophic scars, collections of serous fluid (seromas), and skin ulcers.
- There is no known cure for HERDA and affected horses are often deemed unrideable due to the severity of their symptoms. If the condition progresses and wounds deepen, euthanasia might become necessary.
The Case Report
- This case report documents the clinical symptoms and genetic diagnostics of an 8-year-old horse affected by HERDA, which had a notably mild clinical presentation previously undiagnosed.
- The diagnosis was driven by the horse developing painful skin lesions under the saddle area, leading to its owners seeking consultation with a veterinarian.
- A commercial testing service (Etalon Diagnostics Inc.) confirmed the horse was homozygous for the HERDA c.115G>A missense mutation in the PPIB gene – meaning it had inherited two copies of the mutated gene, one from each parent.
Ideas for Future Research
- The authors indicate the need for additional objective studies to understand the severity and varied clinical presentations of HERDA in horses.
- They suggest that some horses, particularly those with milder symptoms, may be currently underdiagnosed because their condition does not prompt genetic testing based on clinical symptoms alone.
Cite This Article
APA
Patterson Rosa L, Troop TW, Martin K, Vierra M, Foster G, Lundquist E, Brooks SA, Lafayette C.
(2021).
Hereditary Equine Regional Dermal Asthenia homozygote adult working horse with mild signs – A Case Report.
J Equine Vet Sci, 106, 103756.
https://doi.org/10.1016/j.jevs.2021.103756 Publication
Researcher Affiliations
- Etalon, Inc, Menlo Park, CA. Electronic address: lpatterson@etalondx.com.
- Performance Equine Associates, Thackerville, OK.
- Etalon, Inc, Menlo Park, CA.
- Etalon, Inc, Menlo Park, CA.
- Etalon, Inc, Menlo Park, CA.
- Etalon, Inc, Menlo Park, CA.
- Department of Animal Science, UF Genetics Institute, University of Florida, Gainesville, FL.
- Etalon, Inc, Menlo Park, CA.
MeSH Terms
- Animals
- Asthenia / diagnosis
- Asthenia / veterinary
- Euthanasia, Animal
- Homozygote
- Horse Diseases / diagnosis
- Horses
- Humans
- Skin Abnormalities / veterinary
Citations
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