Peer-reviewed veterinary case report
Equine epitheliogenesis imperfecta in two american saddlebred foals is a lamina lucida defect.
- Journal:
- Veterinary pathology
- Year:
- 2002
- Authors:
- Lieto, L D et al.
- Affiliation:
- llieto@niaid.nih.gov
- Species:
- horse
Plain-English summary
Two American Saddlebred fillies were found to have a condition called epitheliogenesis imperfecta (EI), which means they had missing patches of skin and mouth lining, along with some dental issues. When their digestive systems were examined, there were no signs of a serious blockage. A closer look at their skin showed that the outer layer was separating from the inner layer, and special tests revealed problems with the skin structure that were similar to a rare condition seen in newborns in humans. This suggests that the fillies' condition might be linked to a defect in a specific protein that helps hold skin layers together. Unfortunately, the treatment details and outcomes for these foals were not provided in the study.
Abstract
Necropsy of two American Saddlebred fillies diagnosed with epitheliogenesis imperfecta (EI) revealed missing patches of epithelium of the skin and oral mucosa as well as dental abnormalities. Examination of the digestive tract did not reveal signs of pyloric atresia in either foal. Histopathologic examination revealed separation of the epidermis from the dermis. In both foals a division within the lamina lucida of the basal lamina was observed by transmission electron microscopy. In comparison with an age-specific control, the ultrastructure of intact skin from the EI-affected foals showed abnormal hemidesmosomes, which lacked a subbasal plate. The morphological and ultrastructural defects observed in the EI-affected American Saddlebred foals were similar to those observed in Herlitz junctional epidermolysis bullosa-affected human newborns, which is caused by a defect in one of the subunits of laminin-5. The close similarity of lesions of the human and equine diseases suggests that EI may be caused by a laminin-5 defect.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/12243468/