McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to constitutive Gα s activation and ligand-independent signaling of the Gα s-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the GNAS mutation is expressed, as well as the pathophysiologic effects of Gα s activation within these tissues. Patients present clinically with a variable combination of fibrous dysplasia of bone (FD), café-au-lait skin macules, and hyperfunctioning endocrinopathies. In bone, Gα s leads to impaired differentiation of skeletal stem cells and formation of discrete, expansile FD lesions, resulting in fractures, pain, and functional impairment. A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some skeletal morbidities. This review summarizes current understanding of MAS pathophysiology, describes the spectrum of clinical features, and includes a detailed discussion of the recommended approach to diagnosis and management.

Background:Medial meniscal tears are commonly seen during anterior cruciate ligament reconstruction (ACLR). A subset of these injuries includes posterior meniscocapsular junction or “ramp” tears. One criterion that may correlate with a ramp lesion is the presence of posterior medial tibial plateau (PMTP) edema.Purpose:To compare patients with ramp lesions to patients with nonramp (meniscal body) medial meniscal tears and correlate PMTP edema on preoperative magnetic resonance imaging (MRI) to the incidence of ramp tears.Study Design:Case-control study; Level of evidence, 3.Methods:From 2006 to 2016, a total of 852 patients underwent ACLR and had operative reports available for review. Age, sex, laterality, mechanism of injury (contact/noncontact), sport, revision procedure, multiligament injury, time to MRI, and time to surgery were recorded. Preoperative MRI scans were reviewed for PMTP edema using axial, coronal, and sagittal T2 and proton-density sequences. Differences between groups were analyzed using a 2-sample t test and chi-square test. Univariate and multivariate logistic regression models examined correlations with tear type.Results:Overall, 307 patients had medial meniscal tears identified during ACLR (127 ramp lesions, 180 meniscal body lesions). The ramp group was 7.5 years younger than the meniscal body group (P < .01). The groups were not different regarding sex, contact injury, revision surgery, laterality, or multiligament injury. Patients with delayed ACLR were significantly more likely to have a meniscal body tear than a ramp lesion (odds ratio, 3.3 [95% CI, 1.9-5.6]; P < .01). The sensitivity of PMTP edema for a ramp tear was 66.3%, and 54.5% of patients with ACLR and a medial meniscal tear had PMTP edema. Patients with PMTP edema were significantly more likely to have a ramp tear than a meniscal body tear (odds ratio, 2.1 [95% CI, 1.1-4.1]; P < .03).Conclusion:The overall incidence of ramp tears in patients undergoing ACLR was 14.9%, and these tears were more prevalent in younger patients. Meniscal body tears were significantly more likely than ramp tears with delayed ACLR. In patients undergoing ACLR with an associated medial meniscal tear, the presence of PMTP edema demonstrated significantly greater odds for ramp lesions compared with meniscal body tears.

Context Pain is a major symptom in adults with Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS) and response to current treatments, including bisphosphonates and standard analgesics (NSAIDs and opiates) is unpredictable. No studies have explored whether the type of pain is variable in this patient group. Objective To determine the frequency of neuropathic-like pain in patients with FD/MAS. Design Retrospective, dual registry study Setting Community Patients FD/MAS online registries: the FD Foundation (FDF), USA based, and the Rare and Undiagnosed Diseases (RUDY) study (UK) Intervention Subjects completed questionnaires to evaluate the presence of features of neuropathic-like pain (painDETECT) and the impact sleep quality (Pittsburgh Sleep Quality Index) and mental health (Hospital Anxiety and Depression Scale). Descriptive statistics were used to characterize the prevalence and associated burden of neuropathic-like pain. Main Outcome Measures Incidence of neuropathic, nociceptive and unclear pain. Results Of 249 participants, one third experienced neuropathic-like pain. This group had statistically significantly (p&lt;0.001) worse mental wellbeing and sleep in comparison to those with predominately nociceptive pain. Conclusions Neuropathic-like pain is common in patients with FD/MAS and associated with worse quality of life. Evaluation of pain in patients with FD/MAS should include assessment of neuropathic-like pain to guide personalized approaches to treatment and inform future research.