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Veterinary dermatology2014; 25(6); 547-e96; doi: 10.1111/vde.12145

Dermatological and morphological findings in quarter horses with hereditary equine regional dermal asthenia.

Abstract: Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive disorder affecting quarter horses (QHs); affected horses exhibit characteristic skin abnormalities related to abnormal collagen biosynthesis. Objective: To characterize the thickness and morphological abnormalities of the skin of HERDA-affected horses and to determine the interobserver agreement and the diagnostic accuracy of histopathological examination of skin biopsies from horses with HERDA. Methods: Six affected QHs, confirmed by DNA testing, from a research herd and five unaffected QHs from a stud farm. Methods: The skin thickness in 25 distinct body regions was measured on both sides in all affected and unaffected horses. Histopathological and ultrastructural evaluation of skin biopsies was performed. Results: The average skin thickness in all of the evaluated regions was thinner in the affected horses. A statistically significant difference between skin thickness of the affected and unaffected animals was observed only when the average magnitude of difference was ≥38.7% (P = 0.038). The interobserver agreement for the histopathological evaluation was fair to substantial. The histopathological sensitivity for the diagnosis of HERDA was dependent on the evaluator and ranged from 73 to 88%, whereas the specificity was affected by the region sampled and ranged from 35 to 75%. Conclusions: Despite the regional pattern of the cutaneous signs, skin with decreased thickness was not regionally distributed in the HERDA-affected horses. Histopathological evaluation is informative but not conclusive for establishing the diagnosis. Samples of skin from the neck, croup or back are useful for diagnosis of HERDA. However, the final diagnosis must be confirmed using molecular testing.
Publication Date: 2014-06-25 PubMed ID: 24964390DOI: 10.1111/vde.12145Google Scholar: Lookup
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  • Clinical Trial
  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

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This study is about Hereditary Equine Regional Dermal Asthenia (HERDA), a skin disorder in quarter horses, and is aimed at understanding the changes in skin thickness and structure in affected horses. The study concludes that there is significant variation in skin thickness in affected horses and that molecular testing is a critical determinant for a definitive diagnosis.

Objectives and Methodology

The research chiefly had two objectives:

  • To examine and characterize the variation in skin thickness and structural abnormalities in quarter horses that are affected by HERDA.
  • To ascertain the strength of agreement between independent observations and the diagnostic accuracy of histopathological examination of skin biopsies for HERDA diagnosis.

The researchers used a total of six HERDA-affected quarter horses which were DNA confirmed, from a research herd, and five unaffected quarter horses from a stud farm. They measured skin thickness in 25 separate body regions on both sides in all of the affected and unaffected horses, after which they carried out a histopathological and ultrastructural evaluation of the skin biopsies.

Findings and Results

The research found that in all evaluated regions, the average skin thickness of the affected horses was thinner compared to unaffected ones. However, a statistically significant difference was only observed when the average magnitude of the difference was greater than or equal to 38.7%.

  • The agreement between different observers for the histopathological examination ranged from fair to substantial.
  • The histopathological sensitivity for HERDA diagnosis varied between observers and ranged from 73% to 88%.
  • The specificity of the histopathological examination varied depending on the region sampled and ranged from 35% to 75%.

Conclusions

Despite the regional distribution of cutaneous signs, skin with decreased thickness was not regionally distributed in the HERDA-affected horses. The findings imply that histopathological examination is informative but not definitive for establishing a HERDA diagnosis. Skin samples from the neck, croup, or back proved useful in HERDA diagnosis. However, a definitive diagnosis required confirmation using molecular testing.

Cite This Article

APA
Badial PR, Oliveira-Filho JP, Pantoja JC, Moreira JC, Conceição LG, Borges AS. (2014). Dermatological and morphological findings in quarter horses with hereditary equine regional dermal asthenia. Vet Dermatol, 25(6), 547-e96. https://doi.org/10.1111/vde.12145

Publication

ISSN: 1365-3164
NlmUniqueID: 9426187
Country: England
Language: English
Volume: 25
Issue: 6
Pages: 547-e96

Researcher Affiliations

Badial, Peres R
  • Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, UNESP - Univ Estadual Paulista, Botucatu, São Paulo, Brazil.
Oliveira-Filho, José P
    Pantoja, José Carlos F
      Moreira, José C L
        Conceição, Lissandro G
          Borges, Alexandre S

            MeSH Terms

            • Animals
            • Asthenia / genetics
            • Asthenia / pathology
            • Asthenia / veterinary
            • Biopsy
            • Case-Control Studies
            • Cyclophilins / genetics
            • Female
            • Genetic Markers
            • Horse Diseases / genetics
            • Horse Diseases / pathology
            • Horses
            • Male
            • Mutation, Missense
            • Observer Variation
            • Sensitivity and Specificity
            • Skin / pathology
            • Skin / ultrastructure
            • Skin Diseases, Genetic / genetics
            • Skin Diseases, Genetic / pathology
            • Skin Diseases, Genetic / veterinary

            Citations

            This article has been cited 2 times.
            1. Leite RO, Ferreira JF, Araújo CET, Delfiol DJZ, Takahira RK, Borges AS, Oliveira-Filho JP. Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil. Animals (Basel) 2019 Nov 13;9(11).
              doi: 10.3390/ani9110960pubmed: 31766112google scholar: lookup
            2. 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