Analyze Diet
Veterinary dermatology2004; 15(4); 207-217; doi: 10.1111/j.1365-3164.2004.00402.x

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

Abstract: 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.
Publication Date: 2004-08-13 PubMed ID: 15305927DOI: 10.1111/j.1365-3164.2004.00402.xGoogle Scholar: Lookup
The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
  • Journal Article
  • Research Support
  • Non-U.S. Gov't

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 examines and reports on the clinical, histological, and ultrastructural findings in fifty Quarter horses diagnosed with hereditary equine regional dermal asthenia (HERDA), a skin condition. Based on the observed conditions and pedigree evaluation, the researchers suggest that HERDA is likely inherited as an autosomal recessive trait.

Research Methods and Findings

  • The research was conducted on fifty horses that were either Quarter horses or possessed Quarter horse ancestry. These horses were all suffering from a condition known as hereditary equine regional dermal asthenia (HERDA), also known as “hyperelastosis cutis”. The findings were categorised into clinical, histopathological, ultrastructural, and immunohistological subsets.
  • The scientists used pedigree evaluation to confirm suspected assumptions that HERDA is likely transmitted through an autosomal recessive mode of inheritance.
  • The most common types of skin lesions found in the horses were seromas or haematomas, open wounds, sloughing skin, and skin that didn’t return to its normal position after being tented.
  • Interestingly, histopathology alone couldn’t distinctly diagnose HERDA, although the presence of thin and shortened collagen fibres grouped tightly and organised in clusters within the deep dermis hinted towards the disease.
  • A variety of staining methods were used to analyse the tissues, including trichrome, acid orcein-Giemsa, and the use of immunohistochemical stains for collagens I and III. These techniques showed no glaring deviations when compared to the tissues of healthy horses. Notably, an increase in elastic fibres was not found to be a consistent indicator of HERDA.
  • Even with the help of electron microscopy to study the collagen bundles at a microscopic level, the researchers did not identify abnormal characteristics that significantly differentiated affected horses from their healthy counterparts.

Conclusion

  • The study concludes that a diagnosis of HERDA primarily relies on the clinical presentation of symptoms instead of definitive histopathological lesions. However, histopathological findings may be used to guide the diagnosis process as they often exhibit suggestive abnormalities.

Cite This Article

APA
White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, Naydan D, Spier SJ, Rosychuk RA, Rees C, Veneklasen GO, Martin A, Bevier D, Jackson HA, Bettenay S, Matousek J, Campbell KL, Ihrke PJ. (2004). Hereditary equine regional dermal asthenia (“hyperelastosis cutis”) in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Vet Dermatol, 15(4), 207-217. https://doi.org/10.1111/j.1365-3164.2004.00402.x

Publication

ISSN: 0959-4493
NlmUniqueID: 9426187
Country: England
Language: English
Volume: 15
Issue: 4
Pages: 207-217

Researcher Affiliations

White, Stephen D
  • Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. sdwhite@ucdavis.edu
Affolter, Verena K
    Bannasch, Danika L
      Schultheiss, Patricia C
        Hamar, Dwayne W
          Chapman, Phillip L
            Naydan, Diane
              Spier, Sharon J
                Rosychuk, Rod A W
                  Rees, Christine
                    Veneklasen, Gregg O
                      Martin, Alondra
                        Bevier, Diane
                          Jackson, Hilary A
                            Bettenay, Sonya
                              Matousek, Jennifer
                                Campbell, Karen L
                                  Ihrke, Peter J

                                    MeSH Terms

                                    • Animals
                                    • Cohort Studies
                                    • Diagnosis, Differential
                                    • Ehlers-Danlos Syndrome / diagnosis
                                    • Ehlers-Danlos Syndrome / veterinary
                                    • Female
                                    • Genetic Predisposition to Disease
                                    • Horse Diseases / diagnosis
                                    • Horse Diseases / genetics
                                    • Horse Diseases / pathology
                                    • Horses
                                    • Immunohistochemistry / veterinary
                                    • Male
                                    • Pedigree
                                    • Prospective Studies
                                    • Retrospective Studies
                                    • Skin / pathology
                                    • Skin / ultrastructure

                                    Citations

                                    This article has been cited 9 times.
                                    1. Ishikawa Y, Tufa SF, Keene DR, Bächinger HP, Winand NJ. Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation. MicroPubl Biol 2025;2025.
                                    2. Roberts JH, Halper J. Connective Tissue Disorders in Domestic Animals. Adv Exp Med Biol 2021;1348:325-335.
                                      doi: 10.1007/978-3-030-80614-9_15pubmed: 34807427google 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. McElroy A, Rashmir A, Manfredi J, Sledge D, Carr E, Stopa E, Klinge P. Evaluation of the Structure of Myodural Bridges in an Equine Model of Ehlers-Danlos Syndromes. Sci Rep 2019 Jul 10;9(1):9978.
                                      doi: 10.1038/s41598-019-46444-wpubmed: 31292490google scholar: lookup
                                    5. Hansen N, Foster SF, Burrows AK, Mackie J, Malik R. Cutaneous asthenia (Ehlers-Danlos-like syndrome) of Burmese cats. J Feline Med Surg 2015 Nov;17(11):954-63.
                                      doi: 10.1177/1098612X15610683pubmed: 26486982google scholar: lookup
                                    6. 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
                                    7. Boudko SP, Ishikawa Y, Lerch TF, Nix J, Chapman MS, Bächinger HP. Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse. BMC Res Notes 2012 Nov 8;5:626.
                                      doi: 10.1186/1756-0500-5-626pubmed: 23137129google scholar: lookup
                                    8. Ishikawa Y, Vranka JA, Boudko SP, Pokidysheva E, Mizuno K, Zientek K, Keene DR, Rashmir-Raven AM, Nagata K, Winand NJ, Bächinger HP. Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding. J Biol Chem 2012 Jun 22;287(26):22253-65.
                                      doi: 10.1074/jbc.M111.333336pubmed: 22556420google scholar: lookup
                                    9. Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.