title: Oculo-ectodermal syndrome: a new tumour predisposition syndrome.
abstract: We report a new case of oculo-ectodermal syndrome who developed giant cell granulomas of the jaw, similar to the patient previously described by Toriello et al. (1999). We review reported cases to better delineate the clinical spectrum of this rare condition. Giant cell granulomas developing in childhood seem to be part of the oculo-ectodermal syndrome. This condition appears to be a new tumour predisposition syndrome.
authors.affiliation: Department of Medical Genetics Department of Maxillo-Facial Surgery Department of Pediatric Radiology, CHU Pellegrin, Bordeaux, France Unit of Clinical Genetics, Department of Pediatrics, CHU Limoges, France.
authors.forename: Sonia
authors.initials: S
authors.lastname: Federici
authors.forename: Didier
authors.initials: D
authors.lastname: Griffiths
authors.forename: François
authors.initials: F
authors.lastname: Siberchicot
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Chateil
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D000505:Alopecia / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006101:Granuloma, Giant Cell / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D017495:Hyperpigmentation / Q000473:pathology; D007573:Jaw Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology*; D012535:Scalp / Q000473:pathology; D013577:Syndrome; D014463:Ultrasonography