Abstract
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, Gsα, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues.The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.
Highlights
The original extraskeletal manifestations of fibrous dysplasia (FD) reported by McCune [1] and Albright [2] were café-au-lait spots, precocious puberty, and hyperthyroidism
NIH cohort To evaluate the extraskeletal manifestations observed in patients with FD we reviewed all of the patients seen at the National Institutes of Health over the last 24 years
In addition to the major and more common/classic findings seen in association with FD as part of the McCune-Albright syndrome, we have observed a number of other findings in associated with the disease
Summary
Precocious puberty is one of the defining manifestations of McCune-Albright syndrome (MAS) (10). Cancer The cancers that have been reported in association with FD/MAS, and in which the presumably etiologic gsp mutation has been identified in the malignant tissue, include malignant transformation of FD, thyroid, and breast. In this study a number of findings were seen including learning and speech disorders, such as speech apraxia, and global developmental delay While these findings were seen in approximately 9% of the cohort as a whole, they were found in 44% of the subjects who had had Cushing’s syndrome, indicating that Cushing’s syndrome is a significant risk factor for neuropsychiatric findings in patients with FD/MAS.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
