title: [Swiss warmblood horse with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclophylin B gene (PPIB)].
abstract: Hereditary equine dermal asthenia (HERDA) is an autosomal recessive skin disease that affects predominantly Quarter Horses and related breeds. Typical symptoms are easy bruising and hyperextensible skin on the back. The prognosis is guarded, as affected horses cannot be ridden normally and are often euthanised. In the Quarter Horse, HERDA is associated with a mutation in cyclophilin B (PPIB), an enzyme involved in triple helix formation of collagen. Here we describe the case of a Swiss Warmblood filly with symptoms of HERDA without PPIB-mutation and in which we also could exclude Ehlers-Danlos syndrome Type IV, VI, VIIA, VIIB and VIIC (dermatosparaxis type) as etiological diseases.
authors.affiliation: Abteilung für klinische Dermatologie der Universität Bern. silvia.ruefenacht@itz.unibe.ch
authors.forename: S
authors.initials: S
authors.lastname: Rüfenacht
authors.forename: R
authors.initials: R
authors.lastname: Straub
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: N
authors.initials: N
authors.lastname: Winand
authors.forename: A
authors.initials: A
authors.lastname: Bidaut
authors.forename: M H
authors.initials: MH
authors.lastname: Stoffel
authors.forename: V
authors.initials: V
authors.lastname: Gerber
authors.forename: M
authors.initials: M
authors.lastname: Wyder
authors.forename: E
authors.initials: E
authors.lastname: Müller
authors.forename: P J
authors.initials: PJ
authors.lastname: Roosje
mesh_terms: D000818:Animals; D001247:Asthenia / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D003094:Collagen / Q000378:metabolism; D021983:Cyclophilins / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D005260:Female; D006734:Horse Diseases / Q000235:genetics* / Q000473:pathology; D006736:Horses; D006801:Humans; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology / Q000662:veterinary*
chemical_list: C081786:cyclophilin B; D003094:Collagen; D021983:Cyclophilins