Characterization of the Craniofacial Effects of Fibrous Dysplasia and McCune-Albright Syndrome

摘要

The term "fibrous dysplasia (FD) of the bone" can be used in reference to monostotic disease which involves one bone, polyostotic disease (PFD) which involves many bones and panostotic disease which involves virtually the entire skeleton. McCune-Albright syndrome (MAS) refers to a patient who has FD of the bone plus cafe-au-lait hyperpigmentation and/or one or more endocrinopathies. [Table 1]The mutation responsible for this spectrum of diseases is a sporadic, activating mutation of the G a subunit of the G protein complex. [Fig-ure 1] Multiple receptors utilize G proteins to signal for increased production of the intracellu-lar secondary messenger cyclic AMP (cAMP). In FD/MAS, mutations of G_sa lead to constitutive cAMP signaling.