title: Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.
abstract: OBJECTIVE
  Hyperimmunoglobulin-E syndrome (HIES) is a primary immunodeficiency characterized by eczema, recurrent skin and lung infections with pneumatocoele formation, and extremely elevated serum immunoglobulin-E. The precise immunologic defect and genetic etiology remain unknown. Non-immunologic findings include characteristic facial features (prominent forehead, fleshy nasal tip, and increased interalar distance); skeletal involvement (pathological fractures, scoliosis, and craniosynostosis); and retention of primary teeth. This study aims to characterize intraoral soft tissue findings in HIES patients.
  
  
  METHODS
  Sixty HIES patients (4-54 years, 27 males, 33 females) received intraoral and radiographic evaluations. Chronological dental development was also assessed.
  
  
  RESULTS
  Lesions of the hard palate and dorsal tongue were found in 55% and 60% of patients, respectively. Palatal lesions ranged from a generalized surface keratosis to a midline sagittal fibrotic bridge. Tongue lesions consisted of multiple fissures and a midline cleft. On the lip and buccal mucosa, keratotic plaques and/or surface fissures were found in 8% and 23% of patients, respectively. Manifested in 76.7% of patients, the intraoral lesions were significantly more prevalent than the characteristic facial traits (P=0.0013).
  
  
  CONCLUSIONS
  Alterations in oral mucosa and gingiva were present in the majority of HIES patients. These novel intraoral findings may facilitate the diagnosis of HIES.
authors.affiliation: National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA. ddomingo@mail.nih.gov
authors.forename: D L
authors.initials: DL
authors.lastname: Domingo
authors.forename: A F
authors.initials: AF
authors.lastname: Freeman
authors.forename: J
authors.initials: J
authors.lastname: Davis
authors.forename: J M
authors.initials: JM
authors.lastname: Puck
authors.forename: W
authors.initials: W
authors.lastname: Tianxia
authors.forename: S M
authors.initials: SM
authors.lastname: Holland
authors.forename: T C
authors.initials: TC
authors.lastname: Hart
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005355:Fibrosis; D006801:Humans; D006942:Hypergammaglobulinemia / Q000276:immunology*; D007073:Immunoglobulin E / Q000276:immunology*; D007972:Leukoplakia, Oral / Q000276:immunology; D008047:Lip Diseases / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009059:Mouth Diseases / Q000276:immunology*; D009061:Mouth Mucosa / Q000276:immunology; D009805:Odontogenesis / Q000276:immunology; D021362:Palate, Hard / Q000276:immunology; D010641:Phenotype; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities; D014060:Tongue Diseases / Q000276:immunology
chemical_list: D007073:Immunoglobulin E