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BMC veterinary research2015; 11; 12; doi: 10.1186/s12917-015-0318-8

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.

Abstract: Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia, dermal/cutaneous asthenia or Ehlers-Danlos-like syndrome/s. In 2007, the mutation responsible for Hereditary Equine Regional Dermal Asthenia (HERDA) in Quarter Horses was discovered. Several case reports are available for similar malformations in other breeds than Quarter Horses (Draught Horses, Arabians, and Thoroughbreds) including four case reports for Warmblood horses. Since 2013, a genetic test for the Warmblood Fragile Foal Syndrome Type 1 (WFFS), interrogating the causative point mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1) gene, has become available. Only limited data are available on the occurrence rate and clinical characteristics of this newly detected genetic disease in horses. In humans mutations in this gene are associated with Ehlers-Danlos Syndrome Type VI (kyphoscoliotic form). Methods: This is the first report describing the clinical and histopathological findings in a foal confirmed to be homozygous positive for WFFS. The Warmblood filly was born with very thin, friable skin, skin lesions on the legs and the head, and an open abdomen. These abnormalities required euthanasia just after delivery. Histologic examination revealed abnormally thin dermis, markedly reduced amounts of dermal collagen bundles, with loosely orientation and abnormally large spaces between deep dermal fibers. Conclusions: WFFS is a novel genetic disease in horses and should be considered in cases of abortion, stillbirth, skin lesions and malformations of the skin in neonatal foals. Genetic testing of suspicious cases will contribute to evaluate the frequency of occurrence of clinical WFFS cases and its relevance for the horse population.
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Publication Date: 2015-01-31 PubMed ID: 25637337PubMed Central: PMC4327794DOI: 10.1186/s12917-015-0318-8Google Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The study presents clinical and pathological findings from a foal affected by Warmblood Fragile Foal Syndrome (WFFS). The findings revealed genetic disease manifested as thin and fragile skin, reduced dermal collagen, and abnormally large spaces between dermal fibers.

Introduction

The research paper focuses on analyzing a disease appearing in a newborn foal, known as Warmblood Fragile Foal Syndrome (WFFS). This genetic disease is characterized by thin, breakable skin, skin abnormalities, and a lesioned and open abdomen. To explore this disease fully, an in-depth study of the clinical features and pathology of a foal displaying this abnormality was carried out.

About Warmblood Fragile Foal Syndrome (WFFS)

  • The disease is caused by a specific mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1) gene.
  • In humans, mutations in this gene are associated with Ehlers-Danlos Syndrome Type VI.
  • This disease has been reported in different breeds of horses, such as Quarter Horses, Draught Horses, Arabians, and Thoroughbreds, and is now starting to emerge in Warmblood horses.

Study and Findings

  • This is the first study that describes the clinical and pathological findings of a foal suffering from WFFS.
  • The foal was observed to have very thin and breakable skin, lesions on the head and legs, and an opened abdomen. Unfortunately, the severity of these abnormalities required euthanasia right after delivery.
  • The histological examination of the foal revealed a thin dermis, a significant reduction in dermal collagen bundles, and unusually large spaces between the deep dermal fibers.

Conclusion

WFFS is a newly discovered genetic disease in horses that can potentially have significant impacts on the horse population, causing abortions, stillbirths, and malformations in the skin of newborn foals. Conducting genetic tests in suspicious cases can help assess the frequency of clinical WFFS cases and its relevance to the horse population. This research demonstrates the importance of being aware of this genetic disease when diagnosing skin abnormalities in neonatal foals.

Cite This Article

APA
Monthoux C, de Brot S, Jackson M, Bleul U, Walter J. (2015). Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res, 11, 12. https://doi.org/10.1186/s12917-015-0318-8

Publication

BMC veterinary research
ISSN: 1746-6148
NlmUniqueID: 101249759
Country: England
Language: English
Volume: 11
Pages: 12

Researcher Affiliations

Monthoux, Chloé
  • Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. cmonthoux@vetclinics.uzh.ch.
de Brot, Simone
  • Institute of Veterinary Pathology, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. simone.debrot@nottingham.ac.uk.
  • Current address: School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington, LE12 5RD, UK. simone.debrot@nottingham.ac.uk.
Jackson, Michelle
  • Equine Department, Section Surgery, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. mjackson@vetclinics.uzh.ch.
Bleul, Ulrich
  • Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. ubleul@vetclinics.uzh.ch.
Walter, Jasmin
  • Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland. jwalter@vetclinics.uzh.ch.

MeSH Terms

  • Animals
  • Animals, Newborn / genetics
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / pathology
  • Ehlers-Danlos Syndrome / veterinary
  • Female
  • Homozygote
  • Horse Diseases / genetics
  • Horse Diseases / pathology
  • Horses / genetics
  • Pedigree
  • Skin / pathology

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Citations

This article has been cited 20 times.
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