[Cherubism].
Cherubism is an extensive cystic-like growth mostly affecting the mandible. It is often diagnosed because of a swollen lower half of the face in children. There are familial and de novo cases. The autosomal dominant cases are related to exon 9 -SH3BP2 mutation. The treatment is mainly surgical combining cyst curettage and modeling resections. Anti-TNF therapy could be a new treatment option.
Brix
M
M
Service de chirurgie plastique et maxillofaciale, CHU de Grenoble, BP 217, 38043 Grenoble cedex 09, France. mbrix@chu-grenoble.fr
Peters
H
H
Lebeau
J
J
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D002636:Cherubism / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003937:Diagnosis, Differential; D006801:Humans
D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human