Oculo-ectodermal syndrome: a new tumour predisposition syndrome.
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.
Federici
Sonia
S
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.
Griffiths
Didier
D
Siberchicot
François
F
Chateil
Jean-François
JF
Gilbert
Brigitte
B
Lacombe
Didier
D
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