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The Veterinary clinics of North America. Equine practice2013; 29(3); 689-702; doi: 10.1016/j.cveq.2013.09.001

Heritable equine regional dermal asthenia.

Abstract: Hereditary equine regional dermal asthenia is a form of Ehlers-Danlos syndrome, and has an autosomal recessive mode of inheritance. Affected horses are typically born normal and develop lesions within the first 2 years of life. The most common symptoms of the disease include stretchy, loose skin that feels doughy or mushy. More severely affected horses experience spontaneous skin sloughing and extensive lacerations, hematomas, and seromas from minor trauma. Affected horses have a higher than expected incidence of corneal ulcers. DNA testing can normal, establish carrier and affected status. Palliative therapy is available, but no curative treatment exists.
Publication Date: 2013-11-26 PubMed ID: 24267684DOI: 10.1016/j.cveq.2013.09.001Google Scholar: Lookup
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  • Journal Article

Summary

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This research focuses on an inherited condition in horses known as Hereditary Equine Regional Dermal Asthenia (HERDA), a variant of Ehlers-Danlos syndrome. The condition exhibits symptoms like stretchy, loose, doughy skin, and can cause spontaneous skin damage and a higher frequency of corneal ulcers. Although there is no cure, palliative therapy can manage symptoms.

About HERDA

  • Hereditary Equine Regional Dermal Asthenia, also known as HERDA, is an inherited condition prevalent in horses. It’s a form of Ehlers-Danlos Syndrome, a group of disorders affecting connective tissues, which support the skin, bones, blood vessels, and many other organs and tissues.
  • HERDA is autosomal recessive, meaning both parents have to carry the mutated gene to pass on the disease to their offspring. An affected horse typically appears normal at birth with the disease manifesting in the first two years of its life.

Symptoms and Effects

  • The most recognizable symptom of HERDA is stretchy, loose skin that feels doughy or soft to the touch. This is due to the weakened state of the connective tissues that maintain skin elasticity.
  • More severe cases lead to spontaneous skin sloughing – a condition where the skin falls off without any external cause. This is followed by extensive lacerations (cuts), hematomas (swelling of clotted blood within tissues), and seromas (pockets of serous fluid in a sac-like structure) even from minor injuries.
  • HERDA-affected horses are also found to have a higher than normal occurrence of corneal ulcers, which could potentially impair vision.

Diagnosis and Treatment

  • Diagnosis can be established through DNA testing, which can identify not just affected horses, but also carrier ones i.e., those who carry the mutated gene but do not show symptoms themselves. It can also distinguish between normal horses and carriers, which is vital for breeding programs.
  • As of now, no curative treatment exists for HERDA. The focus is on palliative therapy, centered on easing the symptoms and enhancing the quality of life for the affected horses.

Cite This Article

APA
Rashmir-Raven A. (2013). Heritable equine regional dermal asthenia. Vet Clin North Am Equine Pract, 29(3), 689-702. https://doi.org/10.1016/j.cveq.2013.09.001

Publication

ISSN: 1558-4224
NlmUniqueID: 8511904
Country: United States
Language: English
Volume: 29
Issue: 3
Pages: 689-702

Researcher Affiliations

Rashmir-Raven, Ann
  • Department of Large Animal Clinical Sciences, Veterinary Medical Center, College of Veterinary Medicine, Michigan State University, 736 Wilson Road, Room A116, East Lansing, MI 48824, USA. Electronic address: rashmir@cvm.msu.edu.

MeSH Terms

  • Animals
  • Asthenia / genetics
  • Asthenia / pathology
  • Asthenia / therapy
  • Asthenia / veterinary
  • Horse Diseases / genetics
  • Horse Diseases / pathology
  • Horse Diseases / therapy
  • Horses
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / pathology
  • Skin Diseases, Genetic / therapy
  • Skin Diseases, Genetic / veterinary

Citations

This article has been cited 4 times.
  1. Simon R, Kiener S, Thom N, Schäfer L, Müller J, Schlohsarczyk EK, Gärtner U, Herden C, Leeb T, Lühken G. Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome. G3 (Bethesda) 2023 Aug 30;13(9).
    doi: 10.1093/g3journal/jkad152pubmed: 37462293google scholar: lookup
  2. Vroman R, Malfait AM, Miller RE, Malfait F, Syx D. Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential. Front Genet 2021;12:726474.
    doi: 10.3389/fgene.2021.726474pubmed: 34712265google scholar: lookup
  3. Reiter S, Wallner B, Brem G, Haring E, Hoelzle L, Stefaniuk-Szmukier M, Długosz B, Piórkowska K, Ropka-Molik K, Malvick J, Penedo MCT, Bellone RR. Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States. Genes (Basel) 2020 Dec 18;11(12).
    doi: 10.3390/genes11121518pubmed: 33353040google scholar: lookup
  4. Monthoux C, de Brot S, Jackson M, Bleul U, Walter J. Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res 2015 Jan 31;11:12.
    doi: 10.1186/s12917-015-0318-8pubmed: 25637337google scholar: lookup