Craniofacial fibrous dysplasia is proliferation of benign fibro-osseous tissue that replaces bones along the base of the skull such as the maxilla or sphenoid bone.
Gene affected: GNAS, which encodes the alpha chain of the G protein involved with cAMP regulation
The craniofacial fibrous dysplasia may be isolated and limited to the skull (monostotic) or it may be one of several site of involvement (polyostotic).
The condition is first noted during childhood. It may stop progressing after adolescence but may continue into adulthood.
Clinical findings:
(1) facial asymmetry
(2) disfiguring facial deformity
(3) exophthalmos
(4) orbital dystopia
(5) optic nerve compression
(6) dental malocclusion
Complications:
(1) malignant transformation following radiation therapy
(2) functional disability
(3) cosmetic concerns secondary to facial disfigurement
(4) visual impairment
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