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Veterinary dermatology2007; 18(1); 36-40; doi: 10.1111/j.1365-3164.2007.00562.x

Clinical and pathological findings in a HERDA-affected foal for 1.5 years of life.

Abstract: A Quarter horse filly bred from two horses affected with HERDA (hereditary equine regional dermal asthenia) was observed clinically and its skin histologically for the 1.5 years of its life. Severe signs of the disease did not manifest until 1.5 years of age, and were not temporally related to saddling. Histological comparison to an age-, breed- and sex-matched control did not show any consistent diagnostic features. Monitoring of the proband substantiated previous reports of (i) the autosomal recessive nature of the disease, (ii) mares affected with HERDA being able to foal without damage to the skin or reproductive tract, (iii) HERDA foals appearing phenotypically normal throughout the first year of life, and (iv) demonstrated that histological interpretation of skin specimens from grossly normal skin may be insufficient to differentiate HERDA-affected horses from controls.
Publication Date: 2007-01-16 PubMed ID: 17222238DOI: 10.1111/j.1365-3164.2007.00562.xGoogle Scholar: Lookup
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Summary

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The study discusses the diagnosis and observation of a Quarter horse filly suffering from HERDA (hereditary equine regional dermal asthenia) over a 1.5 year lifespan. The researchers highlight that the severe symptoms of this genetic skin disease didn’t manifest until quite late in the horse’s life and that microscopic analysis of skin tissue couldn’t conclusively diagnose HERDA.

HERDA and the Observed Foal

  • The study’s primary focus was a Quarter horse filly, bred from two horses affected with HERDA. The researchers monitored the horse both clinically and histologically (analyzing skin tissue under the microscope) for the first 1.5 years of its life.
  • A significant observation the researchers made was that severe signs of the disease did not manifest until the foal was 1.5 years old, contrary to some previous assumptions about the disease’s progression.

Comparative Analysis with a Healthy Control

  • The researchers compared the filly’s skin histology to that of a similar horse without HERDA. This comparison failed to show any consistent diagnostic features, meaning that a histological examination of the skin wasn’t enough to conclusively diagnose the disease.

Validation and Findings

  • The study offered additional support to previous reports on various aspects of HERDA. It corroborated that HERDA is inherited in an autosomal recessive fashion – meaning an offspring must receive the disease-causing gene from both parents to be affected.
  • The research also validated earlier understandings that mares (female horses) with HERDA could successfully give birth without any related damage to their skin or reproductive tract. This is an important observation since HERDA primarily affects the horse’s skin, leading to weakness and tearing.
  • In line with previous studies, the filly, despite inheriting the disease, appeared phenotypically normal throughout its first year of life. This indicates that HERDA symptoms do not become visible immediately after birth but might appear at later stages, as late as 1.5 years in the studied foal’s case.
  • The researchers found that histological examination of skin specimens, even from grossly normal skin, might be insufficient to distinguish HERDA-affected horses from uninfected ones. This makes diagnosing the disease more challenging since there may not be any observable traits to provide a definitive diagnosis during the early stages of the horse’s life.

Cite This Article

APA
White SD, Affolter VK, Schultheiss PC, Ball BA, Wessel MT, Kass P, Molinaro AM, Bannasch DL, Ihrke PJ. (2007). Clinical and pathological findings in a HERDA-affected foal for 1.5 years of life. Vet Dermatol, 18(1), 36-40. https://doi.org/10.1111/j.1365-3164.2007.00562.x

Publication

ISSN: 0959-4493
NlmUniqueID: 9426187
Country: England
Language: English
Volume: 18
Issue: 1
Pages: 36-40

Researcher Affiliations

White, Stephen D
  • Department of Medicine and Epidemiology, University of California, Davis, California 95616, USA. sdwhite@ucdavis.edu
Affolter, Verena K
    Schultheiss, Patricia C
      Ball, Barry A
        Wessel, Myrthe T
          Kass, Phillip
            Molinaro, Annette M
              Bannasch, Danika L
                Ihrke, Peter J

                  MeSH Terms

                  • Animals
                  • Animals, Newborn
                  • Asthenia / genetics
                  • Asthenia / veterinary
                  • Female
                  • Genetic Predisposition to Disease
                  • Horse Diseases / genetics
                  • Horse Diseases / pathology
                  • Horses
                  • Pedigree
                  • Skin Diseases, Genetic / genetics
                  • Skin Diseases, Genetic / veterinary

                  Citations

                  This article has been cited 4 times.
                  1. 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
                  2. 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
                  3. 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
                  4. Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.