title: Initial characterization of stiff skin-like syndrome in West Highland white terriers.
abstract: BACKGROUND
  Stiff skin syndrome and systemic or localized scleroderma are cutaneous disorders characterized by dermal fibrosis and present clinically with induration of the skin, with or without joint, internal organ or vascular involvement.
  
  
  OBJECTIVE
  To provide clinical, histological and preliminary genetic analysis of two West Highland white terrier siblings presenting with indurated skin resembling stiff skin syndrome in humans.
  
  
  METHODS
  Two client owned full sibling West Highland white terriers from two different litters.
  
  
  METHODS
  Clinical examination, histopathological examination and whole genome sequencing analysis of affected and unaffected West Highland white terriers.
  
  
  RESULTS
  Affected dogs exhibited markedly indurated skin that was attached firmly to the underlying tissue and incomplete closure of the mouth and eyes. No abnormalities were found by neurological or orthopaedic examination, radiographs of the head or whole body computed tomography. Histologically, the dermis and pannicular septa were thickened by a marked increase in coarse collagen fibres and a mild to moderate increase in collagen fibre diameter. The syndrome most likely follows an autosomal recessive mode of inheritance. The sequence analysis did not reveal any obvious causative variant in the investigated candidate genes ADAMTSL2 and FBN1.
  
  
  CONCLUSIONS
  The clinical phenotype and histopathological features of two West Highland white terrier siblings resembled stiff skin syndrome in humans. Unlike in humans, or previously described beagles with stiff skin, there was no restriction of joint mobility. Genetic analysis did not detect a candidate causative variant and warrants further research.
authors.affiliation: Tieraerztliche Spezialisten, Rodigallee 85, D-22043, Hamburg, Germany.
authors.forename: Maren
authors.initials: M
authors.lastname: Doelle
authors.affiliation: Department of Population Health and Pathobiology, College of Veterinary Medicine, North Carolina State University, 1060 William Moore Drive, Raleigh, NC, 27607, USA.
authors.forename: Keith E
authors.initials: KE
authors.lastname: Linder
authors.affiliation: Kleintierpraxis in Wandsbek, Wandsbeker Königstraße 50, D-22041, Hamburg, Germany.
authors.forename: Janna
authors.initials: J
authors.lastname: Boche
authors.affiliation: DermFocus, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.|Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.
authors.forename: Vidhya
authors.initials: V
authors.lastname: Jagannathan
authors.affiliation: DermFocus, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.|Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
authors.affiliation: Tieraerztliche Spezialisten, Rodigallee 85, D-22043, Hamburg, Germany.
authors.forename: Monika
authors.initials: M
authors.lastname: Linek