title: Olmsted syndrome: exploration of the immunological phenotype.
abstract: BACKGROUND
  Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome.
  
  
  METHODS
  Genetic, clinical and immunological profiling was performed on a case study patient with the clinical diagnosis of Olmsted syndrome.
  
  
  RESULTS
  The patient was found to harbour a previously undescribed 1718G-C transversion in TRPV3, causing a G573A point mutation. In depth clinical and immunological analysis found multiple indicators of immune dysregulation, including frequent dermal infections, inflammatory infiltrate in the affected skin, hyper IgE production and elevated follicular T cells and eosinophils in the peripheral blood.
  
  
  CONCLUSIONS
  These results provide the first comprehensive assessment of the immunological features of Olmsted syndrome. The systemic phenotype of hyper IgE and persistent eosinophilia suggest a primary or secondary role of immunological processes in the pathogenesis of Olmsted syndrome, and have important clinical consequences with regard to the treatment of Olmsted syndrome patients.
authors.affiliation: Autoimmune Genetics Laboratory, VIB, Leuven, Belgium.
authors.forename: Dina
authors.initials: D
authors.lastname: Danso-Abeam
authors.forename: Jianguo
authors.initials: J
authors.lastname: Zhang
authors.forename: James
authors.initials: J
authors.lastname: Dooley
authors.forename: Kim A
authors.initials: KA
authors.lastname: Staats
authors.forename: Lien
authors.initials: L
authors.lastname: Van Eyck
authors.forename: Thomas
authors.initials: T
authors.lastname: Van Brussel
authors.forename: Shari
authors.initials: S
authors.lastname: Zaman
authors.forename: Esther
authors.initials: E
authors.lastname: Hauben
authors.forename: Marc
authors.initials: M
authors.lastname: Van de Velde
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Morren
authors.forename: Marleen
authors.initials: M
authors.lastname: Renard
authors.forename: Christel
authors.initials: C
authors.lastname: Van Geet
authors.forename: Heidi
authors.initials: H
authors.lastname: Schaballie
authors.forename: Diether
authors.initials: D
authors.lastname: Lambrechts
authors.forename: Jinsheng
authors.initials: J
authors.lastname: Tao
authors.forename: Dean
authors.initials: D
authors.lastname: Franckaert
authors.forename: Stephanie
authors.initials: S
authors.lastname: Humblet-Baron
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
authors.forename: Adrian
authors.initials: A
authors.lastname: Liston
mesh_terms: D000328:Adult; D004802:Eosinophilia / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D005148:Facial Dermatoses / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D006965:Hyperplasia / Q000235:genetics / Q000276:immunology / Q000473:pathology; D007073:Immunoglobulin E / Q000097:blood / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology*; D007642:Keratosis / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000473:pathology; D013577:Syndrome; D050916:TRPV Cation Channels / Q000235:genetics; D055815:Young Adult
chemical_list: D050916:TRPV Cation Channels; C459445:TRPV3 protein, human; D007073:Immunoglobulin E