Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome

Launched by NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH (NIDCR) · Jan 18, 2000

Keywords

ClinConnect Summary

Polyostotic fibrous dysplasia (PFD) is a sporadic disorder in which multiple sites of bone are replaced by abnormal fibrous tissue. PFD may occur alone or as part of the McCune Albright syndrome (MAS). We have previously identified a somatic activating mutation in the gene encoding the alpha-subunit of Gs, the G protein which mediates the action of hormones that work by increasing intracellular levels of cyclic adenosine monophosphate (cAMP), in affected tissues from patients with PFD and MAS. The objectives of this study are to determine how activating mutations of the Gs alpha-subunit lea...

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • All patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia (PFD).
• • Tissue will only be obtained from those patients in whom the procedure is clinically indicated for standard reasons such as treatment of or prevention of fractures, or disfigurement resulting from abnormal growth of facial and/ or skull bones.
• • The diagnosis of PFD will have been established by standard radiologic criteria and in patients with McCune Albright syndrome (MAS), also by the characteristic skin and endocrine manifestations associated with that form of the disease.
• • Patients meeting criteria for juvenile dermatomyositis who undergo surgical removal of calcinosis are eligible. The tissue from surgery would be used in the research study.