title: Hereditary equine regional dermal asthenia in three related Quarter horses in Brazil.
abstract: Hereditary equine regional dermal asthenia belongs to a group of inherited, congenital connective tissue dysplasias usually described as hyperelastosis cutis, cutaneous asthenia, dermatosparaxis, or Ehlers-Danlos-like syndrome. This report presents the clinical and histological features of three related Quarter horses affected with regional dermal asthenia. These horses had bilateral asymmetric lesions of the trunk and lumbar regions, where the skin was hyperextensible. Handling of the skin elicited a painful response and superficial trauma led to skin wounds. The skin was thinner than normal in the affected areas, with thickened borders and harder fibrotic masses (pseudotumours). The histopathological findings included thinner and smaller collagen fibrils, and a loose arrangement of collagen fibres in the middle, adventitial and deep dermis. Masson's trichrome and Calleja stains did not reveal any abnormality of collagen and elastic fibres. Electron microscopy showed no abnormalities. As in human patients, pseudotumour histopathological findings included fibroplasia and neovascularization. The pedigree chart of these animals supports an autosomal recessive type of inheritance, which has been suggested by other studies. This is the first report of this disease in Brazil. Its clinical and histological features resemble those described in horses affected with this condition in the United States.
authors.affiliation: Universidade Estadual Paulista, Faculdade de Medicina Veterinária e Zootecnia, Unesp, Botucatu, SP, Brazil. asb62@cornell.edu
authors.forename: Alexandre S
authors.initials: AS
authors.lastname: Borges
authors.forename: Lissandro G
authors.initials: LG
authors.lastname: Conceição
authors.forename: Ana L G
authors.initials: AL
authors.lastname: Alves
authors.forename: Viciany E
authors.initials: VE
authors.lastname: Fabris
authors.forename: Marcelo A
authors.initials: MA
authors.lastname: Pessoa
mesh_terms: D000818:Animals; D001247:Asthenia / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D001938:Brazil; D005260:Female; D020022:Genetic Predisposition to Disease; D006734:Horse Diseases / Q000235:genetics* / Q000473:pathology; D006736:Horses; D007150:Immunohistochemistry / Q000662:veterinary; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology