equis - Articles
Skin: epidermolysis bullosa
Synonym(s): Bullous epidermolysis, epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa
Introduction
- Epidermolysis bullosa (EB) is a heterogeneous group of inherited diseases characterized by skin blistering and fragility following trivial trauma.
- Cause: hereditary disease of the basement membrane involving abnormal keratin intermediate filaments and/or abnormal anchoring mechanisms.
- Signs: blistering skin disease affecting oral cavity and frictional areas.
- Diagnosis: signalment, history, clinical signs and biopsy.
- Treatment: no effective treatment.
- Prognosis: poor.
Presenting signs
- Blistering disease of skin and mucocutaneous junctions.
Acute presentation
- Bullae and ulcers typically affect the oral cavity, coronets, mucocutaneous junctions and over areas of bony prominences.
Age predisposition
- Due to the congenital nature.
Breed/Species predisposition
- Draft horses, especially Belgians and American Saddlebreds Saddlebred .
Public health considerations
- No treatment is available thus there is no cost associated with therapy.
- Due to the poor prognosis and the hereditary nature of the disease, affected horses are usually euthanized and mare and stallion should not be used for future breeding.
Pathogenesis
Etiology
- Hereditary defect of various components of the epidermis and/or basement membrane.
- It is further classified as:
- Epidermolysis bullosa simplex defect is in the intermediate filaments (keratin 5 or 14).
- Junctional epidermolysis bullosa defect in integrins ±6 or ²4 , type XVIII collagen, or laminin 5.
- Dystrophic epidermolysis bullosa defect in type VII (anchoring fibrils).
Predisposing factors
General- Genetically inherited disease.
Pathophysiology
- Due to defect in proteins important for anchoring the basement membrane, cleavage occurs either in the lower parts of the epidermis or in the basement membrane.
- Vesicles or bullae develop.
- As these lesions are very fragile, rupture easily occurs → ulcers.
Timecourse
- Foals may be born with lesions or it is noticeable in the first few days after birth.
- Foals rapidly develop secondary infections due to the extensive ulcers and are euthanized.
Diagnosis
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Treatment
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Prevention
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Outcomes
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Further Reading
Publications
Refereed papers
- Recent references from PubMed and VetMedResource.
- Milenkovic D, Mata X, Chadi S & Guerin G (2005) DNA sequence of the horse (Equus caballus) LAMA3 gene and characterization of two intronic SNP markers. DNA Seq 16 (6), 468-473 PubMed.
- Milenkovic D, Chaffaux S, Taourit S & Guerin G (2003) A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genet Sel Evol 35 (2), 249-256 PubMed.
- Lieto L D, Swerczek T W & Cothran E G (2002) Equine epitheliogenesis imperfecta in two american saddlebred foals is a lamina lucida defect. Vet Pathol 39 (5), 576-580 PubMed.
- Spirito F, Charlesworth A, Linder K et al (2002) Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol 119 (3), 684-691 PubMed.