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Hereditary junctional mechanobullous disease in a foal.

Abstract: Mechanobullous disease was diagnosed in a male Belgian foal that had sloughed hooves at 30 hours and at 6 and 12 days of age. Histologic and electron microscopic studies disclosed that lesions were the result of separation of the basal epithelial cell layer from the lamina densa of the basement membrane zone along the lamina lucida. Results of immunofluorescence on tissue specimens were negative for immunoglobulin deposition. The breeding history of the foal's dam indicated that the foal was produced from breeding of the mare to its full sibling stallion. This same mare had produced a female foal, sired by a different stallion, which also had sloughed hooves during the first 2 weeks of life and had similar histologic and electron microscopic changes. This newly recognized disease of horses most closely resembles junctional-type epidermolysis bullosa described in human beings.
Publication Date: 1988-12-01 PubMed ID: 3209456
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Summary

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This study reports a case of a genetic skin disease, known as Mechanobullous disease, found in a foal (young horse), with characteristics closely resembling the junctional-type epidermolysis bullosa, known in humans.

Case Details

  • Researchers reported a case of Mechanobullous disease in a male foal of the Belgian breed. The foal exhibited symptoms of the disease early on, with signs of sloughed hooves appearing at 30 hours, and then again at 6 and 12 days of age.

Observations and Investigation

  • Upon analysis through histologic and electron microscopic studies, the researchers found that the disease resulted in the basal epithelial cell layer separating from the lamina densa of the basement membrane zone along the lamina lucida.

Immunofluorescence Test Results

  • Immunofluorescence tests that were performed on tissue specimens from the foal were negative for immunoglobulin deposition.

Breeding History of the Foal

  • The study noted that the mare (the mother of the foal) was bred with its full sibling stallion (the father). This same mare had previously given birth to a female foal from a different sire, who also showed sloughed hooves during the initial two weeks of life, and exhibited similar histologic changes.

Comparative Study with Human Disease

  • The condition observed in the foal closely resembled a disease seen in human beings, namely, junctional-type epidermolysis bullosa, highlighting the possible hereditary nature of the disease in the foal.

Significance of the Study

  • This study sheds light on a previously unrecognized disease in horses, suggesting that it is most likely a genetic disorder. Detailed study and understanding of such diseases can help in diagnosing and managing similar cases in the future, potentially informing breeding decisions to avoid passing these hereditary conditions to future generations.

Cite This Article

APA
Frame SR, Harrington DD, Fessler J, Frame PF. (1988). Hereditary junctional mechanobullous disease in a foal. J Am Vet Med Assoc, 193(11), 1420-1424.

Publication

ISSN: 0003-1488
NlmUniqueID: 7503067
Country: United States
Language: English
Volume: 193
Issue: 11
Pages: 1420-1424

Researcher Affiliations

Frame, S R
  • Department of Veterinary Pathobiology, School of Veterinary Medicine, Purdue University, West Lafayette, IN 47907.
Harrington, D D
    Fessler, J
      Frame, P F

        MeSH Terms

        • Animals
        • Diagnosis, Differential
        • Epidermolysis Bullosa / veterinary
        • Female
        • Foot Diseases / pathology
        • Foot Diseases / veterinary
        • Hoof and Claw / pathology
        • Horse Diseases / genetics
        • Horse Diseases / pathology
        • Horses
        • Male
        • Pedigree

        Citations

        This article has been cited 2 times.
        1. Bubier JA, Sproule TJ, Alley LM, Webb CM, Fine JD, Roopenian DC, Sundberg JP. A mouse model of generalized non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2010 Jul;130(7):1819-28.
          doi: 10.1038/jid.2010.46pubmed: 20336083google scholar: lookup
        2. Kiener S, Troyer H, Ruvolo D, Grest P, Soto S, Letko A, Jagannathan V, Leeb T, Mauldin EA, Yang C, Rostaher A. Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa. Genes (Basel) 2023 Sep 22;14(10).
          doi: 10.3390/genes14101835pubmed: 37895184google scholar: lookup