Cherubisme: an agressive form in one family
Objectives: To describe clinical and radiological craniofacial and dental aspects of cherubism in a familial case.
Methods: We discuss a particular presentation of 5 cases of familial cherubism having aggressive characteristics within the same family. We did a clinico-radiologic evaluation for all the members of the family. A genetic investigation was made. We planned a ‘wait and see’ protocol without active intervention based on clinical and radiologic analysis of the lesions as well as search for functional impairments. All five cases are currently on regular follow-up.
Results: Case 1 (the father): Had a severe form of cherubism with bilateral jaw and maxilla enlargement causing a severe face deformation, but had spontaneous involution after puberty. He has as sequalae a total teeth loss and a squared face.
Case 2 and 3 (2 sons, aged respectively 11 and 6 years old): Present a severe form of cherubism with bilateral jaw and maxilla enlargement causing a severe facial deformaty with lower eyelids retraction and slight upward turning of the eyes. We observed also severe dental crowding due to bone deformation. Radiology shows involvement of the whole mandibula and maxilla.
Case 4 and 5 (Mother and 2 and a half years old daughter): a hypertrophy of both mandibular angles giving a subtle facial deformaty is described in these two cases; a clinical and radiological follow up for the daughter is planned and a surgical intervention might be indicated if she starts showing aggressive form of cherubism.
Conclusions: Although cherubism is a self-limiting non-neoplastic fibro-osseous disorder, it may cause severe face deformities in early ages affecting the patient’s life and compromising his social integration.