The importance of clinical and radiological findings for the definitive histopathologic diagnosis of benign fibro-osseous lesions of the jaws: Study of 276 cases.

PURPOSE: Benign fibro-osseous lesions (BFOLs) are heterogeneous intraosseous disease processes sharing overlapping histopathologic features and demonstrate a wide range of biological behavior. The aim of this study is to highlight the importance of clinical and radiological findings for the definitive histopathologic diagnosis of benign fibro-osseous lesions of the jaws. MATERIALS AND METHODS: This is a cross-sectional retrospective study evaluating the three main groups of BFOLs: Cemento-osseous dysplasia, ossifying fibromas, and fibrous dysplasia. Previously diagnosed BFOL cases were searched for thoroughly from the archives of Istanbul University, Institute of Oncology, Department of Tumor Pathology in between 2005 and 2015. Clinical and radiological data of these cases were identified and recorded. The histopathologic features were reevaluated from the H&E-stained slides. RESULTS: A total of 276 BFOL cases were identified and reevaluated for the study. The most common BFOL type was cemento-osseous dysplasia (n = 135), followed by cemento-ossifying fibroma (n = 77), fibrous dysplasia (n = 53) and juvenile ossifying fibroma (n = 11). The female/male ratio was 3.4:1 with a strong predilection for the 4th decade (n = 102). The mandible (n = 209) was the predominantly affected jaw. Prominent osteoblastic rimming around the bony lesion was commonly observed for cemento-ossifying fibroma (n = 60/77), followed by cemento-osseous dysplasia (n = 23/135). Predominant ossification patterns showed some differences among the groups. The most common radiological feature was the mixed radiolucent/radiopaque internal structure. CONCLUSION: Our results document various clinical, radiological and histopathologic findings of BFOLs. Even some histopathologic differences are observed, clinical and radiographic correlation is mandatory prior to the definitive histopathologic diagnosis of BFOLs for the prevention of possible misdiagnoses or inappropriate treatments.

Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome.

CONTEXT: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and disability. There are no targeted or effective therapies to alter the disease course. Disease arises from somatic gain-of-function variants at the R201 codon in GNAS, replacing arginine by either cysteine or histidine. The relative pathogenicity of these variants is not fully understood. OBJECTIVE: This work aimed 1) to determine whether the most common GNAS variants (R201C and R201H) are associated with a specific clinical phenotype, and 2) to determine the prevalence of the most common GNAS variants in a large patient cohort. METHODS: This retrospective cross-sectional analysis measured the correlation between genotype and phenotype characterized by clinical, biochemical, and radiographic data. RESULTS: Sixty-one individuals were genotyped using DNA extracted from tissue or circulating cell-free DNA. Twenty-two patients (36.1%) had the R201C variant, and 39 (63.9%) had the R201H variant. FD skeletal disease burden, hypophosphatemia prevalence, fracture incidence, and ambulation status were similar between the 2 groups. There was no difference in the prevalence of endocrinopathies, ultrasonographic gonadal or thyroid abnormalities, or pancreatic involvement. There was a nonsignificant association of cancer with the R201H variant. CONCLUSION: There is no clear genotype-phenotype correlation in patients with the most common FD/MAS pathogenic variants. The predominance of the R201H variant observed in our cohort and reported in the literature indicates it is likely responsible for a larger burden of disease in the overall population of patients with FD/MAS, which may have important implications for the future development of targeted therapies.

Optic disc edema in fibrous dysplasia/McCune-Albright syndrome: Prevalence, etiologies, and clinical implications.

BACKGROUND: Fibrous dysplasia (FD) is a rare disorder of expansile fibro-osseous lesions that may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Optic disc edema is a potentially serious ophthalmologic finding that has been rarely reported in patients with FD/MAS. The purpose of this study was to investigate the prevalence and potential clinical associations of optic disc edema in a large cohort. METHODS: Clinical records were reviewed from subjects in an ongoing FD/MAS natural history study. Computed Tomography scans were evaluated for the presence of structural craniofacial abnormalities associated with optic disc edema, including Chiari I malformation and space-occupying lesions. Craniomorphometric analyses were performed to determine optic canal diameter and intracranial volume. Statistical analyses were performed to compare clinical and radiographic features between subjects with and without optic disc edema. RESULTS: Optic disc edema was diagnosed in 7/187 subjects, for a prevalence of 3.7%. All subjects with optic disc edema were diagnosed before age 18 years and had mild, non-progressive disease. Radiographic structural abnormalities, including Chiari I malformation, aneurysmal bone cysts, and arachnoid cysts, were associated with higher odds of optic disc edema (odds ratio [OR] 24.3; 95% confidence interval [CI], 4.2 to 121.4; p < 0.01) (OR 18.0; 95% CI, 3.4 to 108.2; p < 0.01). Treatment with leuprolide, a gonadotropin releasing hormone analog, was also associated with optic disc edema (OR 26.0; 95% CI 3.3 to 177.5; p < 0.05). There was no significant association of optic disc edema with other MAS endocrinopathies, medications, optic canal diameter, or intracranial volume. CONCLUSION: Optic disc edema is an uncommon but potentially serious complication of craniofacial FD, which may occur more frequently in pediatric patients and those with structural craniofacial abnormalities. The potential association of leuprolide therapy with optic disc edema in this population warrants further study.

Radiological findings of fibrocartilaginous coalition of the third tarsometatarsal joint: a retrospective cross-sectional study with computed tomography and magnetic resonance imaging.

BACKGROUND: Fibrocartilaginous coalition of the third tarsometatarsal joint has been indicated as an extremely rare form of tarsal coalition in the radiological literature, and most articles concerned with tarsal coalition do not mention involvement of this joint. Only two reports written in the English language that approach this subject were found, an orthopedic report and an anthropological report. PURPOSE: To evaluate the prevalence of this finding and discuss and illustrate the radiological characteristics of this coalition. MATERIAL AND METHODS: A retrospective analysis of 614 computed tomography or magnetic resonance imaging scans of the ankle and/or foot, acquired at a health service within a period of three months, was performed to assess the prevalence of this coalition. RESULTS: Of the examinations characterized as valid for analysis for the purposes of the study, 17 cases compatible with fibrocartilaginous coalition of the third tarsometatarsal joint were found, thus indicating an involvement of approximately 2.97% of the examined feet. CONCLUSION: Our radiological findings are typical, and the prevalence found in this study was statistically significant, being similar to that described in the anthropological report (3.2%-6.8%).

Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.

Fibrous dysplasia (FD) is a mosaic disease in which bone is replaced with fibro-osseous tissue. Lesions expand during childhood, reaching final burden by age 15 years. In vitro data suggest that disease activity decreases in adulthood; however, there is no clinical data to support this concept. Bone turnover markers (BTMs) have been used as markers of disease activity in FD; however, the natural history of BTM changes, the effects of antiresorptive treatment, and their association to clinical outcomes have not been described. The goals of this study are to describe 1) the natural history of FD disease activity and its association with pain; 2) the impact of bisphosphonates on the natural history of BTMs; and 3) the effect of bisphosphonates on progression of FD burden during childhood. Disease burden scores and alkaline phosphatase, osteocalcin, NTx, FGF23, and RANKL levels from 178 subjects in an FD/MAS natural history study were reviewed, including 73 subjects treated with bisphosphonates. BTMs, RANKL, and FGF23 demonstrated a sustained reduction with age. Bisphosphonate treatment did not significantly impact this age-dependent decrease in BTMs. Pain was more prevalent and severe in adults compared with children and was not associated with BTMs. In children, the progression of disease burden was not affected by bisphosphonates. In conclusion, FD is associated with an age-dependent decline in bone turnover and other markers of disease activity. Pain, in contrast, is more frequent and severe in adults with FD and is not related to bone turnover. Bisphosphonate treatment does not significantly impact the age-dependent decrease in bone turnover, nor does it prevent the progression of FD disease burden in children. These findings, in association with the established adverse effects of antiresorptives, should be considered when evaluating use and response to bisphosphonates in patients being treated for FD and in any study using BTMs as surrogate endpoints. © 2019 American Society for Bone and Mineral Research.

A retrospective clinico-pathologic analysis of cemento-osseous dysplasia in a South African patient population.

BACKGROUND: Cemento-osseous dysplasia (COD) is a fibro-osseous jaw bone lesion. The affected bone in COD progressively becomes sclerotic, poorly vascularized and susceptible to secondary osteomyelitis. OBJECTIVE: To provide a clinico-pathologic appraisal of COD in a South African patient population. METHODS: Archived records of 133 patients diagnosed with COD were reviewed for patient demographics, COD location, COD type, osteomyelitis or simple bone cyst secondary to COD. RESULTS: The mean age was 53.4 ± 13.5 years with a 94.7% female predilection. COD mainly affected the mandible (57.1%), followed by involvement of both jaws (38.3%) and maxilla (4.5%). Florid COD was the most prevalent (69.9%), followed by focal COD (18%) and periapical COD (12%). Florid COD showed a clear trend of increasing with age, peaking in the sixth decade and decreasing thereafter. Osteomyelitis and simple bone cyst presented as complications of COD in 74.4% and 5.3% of cases respectively, while 21.8% of all cases of jaw osteomyelitis during the study period were secondary to COD. CONCLUSION: A higher frequency of jaw osteomyelitis secondary to COD was found compared to previous studies. No significant association was shown between any of the COD types and secondary osteomyelitis.

The 5-year prevalence of maxillofacial fibro-osseous lesions in Uganda.

BACKGROUND: Fibro-osseous lesions of the jaws are a diagnostic challenge for the pathologist because histologically, they are not easily distinguishable. African data on the prevalence of these lesions are scarce. We present a 5-year report of benign fibro-osseous lesions at Mulago Hospital, Uganda, showing the frequency and distribution of these lesions. MATERIALS AND METHODS: Confirmed fibro-osseous lesions reports at the pathology department (2007-2012) were retrieved. Patients' clinical data including age, gender, anatomic location, and diagnosis were recorded. Descriptive statistics and simple proportion tests were carried out. RESULTS: We retrieved 155 confirmed benign fibro-osseous lesions over this period, 65% were females, 34% males, and the gender of one case was not specified. Fibrous dysplasia was the most prevalent lesion (n = 87, 56.1%) followed by ossifying fibroma (n = 50, 32.9%) and osseous dysplasia (n = 17, 10.9%). We neither found craniofacial nor polyostotic fibrous dysplasia. Fibrous dysplasia and ossifying fibroma peaked in the second decade at 40.2% and 40.0%, respectively. Florid osseous dysplasia was commonest in the fifth decade. CONCLUSION: In this study, all the florid osseous dysplasia were seen among females. We need to carry out prospective studies to establish as to why and what kind of women get afflicted by this lesion.

A pilot study evaluating presurgery neuroanatomical biomarkers for postoperative cognitive decline after total knee arthroplasty in older adults.

BACKGROUND: Total knee arthroplasty improves quality of life but is associated with postoperative cognitive dysfunction in older adults. This prospective longitudinal pilot study with a parallel control group tested the hypotheses that (1) nondemented adults would exhibit primary memory and executive difficulties after total knee arthroplasty, and (2) reduced preoperative hippocampus/entorhinal volume would predict postoperative memory change, whereas preoperative leukoaraiosis and lacunae volumes would predict postoperative executive dysfunction. METHODS: Surgery (n = 40) and age-education-matched controls with osteoarthritis (n = 15) completed pre- and postoperative (3 weeks, 3 months, and 1 yr) memory and cognitive testing. Hypothesized brain regions of interest were measured in patients completing preoperative magnetic resonance scans (surgery, n = 31; control, n = 12). Analyses used reliable change methods to identify the frequency of cognitive change at each time point. RESULTS: The incidence of postoperative memory difficulties was shown with delay test indices (i.e., story memory test: 3 weeks = 17%, 3 months = 25%, 1 yr = 9%). Postoperative executive difficulty with measures of inhibitory function (i.e., Stroop Color Word: 3 weeks = 21%, 3 months = 22%, 1 yr = 9%). Hierarchical regression analysis assessing the predictive interaction of group (surgery, control) and preoperative neuroanatomical structures on decline showed that greater preoperative volumes of leukoaraiosis/lacunae were significantly contributed to postoperative executive (inhibitory) declines. CONCLUSIONS: This pilot study suggests that executive and memory declines occur in nondemented adults undergoing orthopedic surgery. Severity of preoperative cerebrovascular disease may be relevant for understanding executive decline, in particular.

A Clinicopathologic Analysis of 207 Cases of Benign Fibro-Osseous Lesions of the Jaws.

Benign fibro-osseous lesion (BFOL) is a distinct group of jaw entities composed of fibrocellular tissue and mineralized materials. In this study, we examined the epidemiological, clinical, and pathological features of patients with BFOL. Records and microslides of 207 BFOLs submitted to pathology service were retrospectively reviewed. Overall, fibrous dysplasia (FD) was the most prevalent (36.7%), followed by ossifying fibroma (OF; 32.4%), osseous dysplasia (OD; 24.6%), and juvenile ossifying fibroma (JOF; 6.3%). Female predilection was noted. FD and JOF were common in maxilla, whereas most OF and OD affected the mandible. Most patients with FD and OF presented with painless swelling, while patients with OD were symptomless. The majority of FD specimens showed woven bone, while a mixture of woven bone and cementum-like materials was often noted in OF and OD. Our data show variations in the clinicopathologic features of BFOLs. A thorough examination of all aspects of BFOL patients is imperative for accurate diagnosis.

A prospective epidemiological study for odontogenic and non-odontogenic lesions of the maxilla and mandible in Queensland.

OBJECTIVES: Investigate the epidemiological profile for odontogenic and non-odontogenic intra-osseous lesions in the Queensland population (4.56 million) over 12 months. STUDY DESIGN: The following data were prospectively collected from all Queensland histopathology laboratories in 2011: gender, age at diagnosis, location of lesion, histopathological diagnosis of the lesion and the patient's postcode. RESULTS: Six-hundred and thirty-three lesions were collected, comprising 540 odontogenic cysts and 93 odontogenic tumors. Radicular cyst was the most frequently diagnosed lesion (247/540, 45.7%). The overall incidence of odontogenic tumors was 20.4/million. Keratocystic odontogenic tumor was the highest (15.1/million), followed by ameloblastoma (2.41/million) with odontoma and calcifying cystic odontogenic tumor having the same incidence (1.1/million). The 39 non-odontogenic intra-osseous lesions had an overall incidence of 8.55/million. Nasopalatine cysts had an incidence of 2.19/million, followed by fibrous dysplasia and central giant cell granuloma (1.97/million). CONCLUSIONS: Odontogenic tumors are 5 times less common than cysts. Non-odontogenic lesions are rare, with benign lesions 6.8 times more common than malignant lesions.

Benign fibro-osseous lesions of the jaws in children. A 12-year retrospective study.

INTRODUCTION: Fibro-osseous lesions, a diverse group of bone disorders including developmental, reactive or dysplastic diseases and neoplasms, share overlapping clinical, radiographic and histopathologic features and demonstrate a wide range of biological behaviour. AIM: To evaluate the characteristics, treatment and outcome of benign fibro-osseous lesions of the jaws in children. PATIENTS AND METHOD: All patients with fibro-osseous lesions of the jaws treated at the department of Oral and Maxillofacial Surgery of the «A & P Kyriakou¼ Children's Hospital of Athens from 2000 to 2011 were included in this study. Data were retrieved from patients' files and their present situation was registered. RESULTS: Sixteen males and 10 females (mean age 8.5 years) were treated. Fibrous dysplasia was most often encountered (26.9%), and the mandible was the most frequent location (76.9%). All cases were surgically treated and histopathologically confirmed. Marginal ostectomy was performed in 7 cases, partial ostectomy in 4, enucleation and curettage in 10 and trimming-remodelling in 5 cases. Mean follow-up was of 5.5 years with no recurrence, except in one case of fibrous dysplasia. CONCLUSIONS: Fibro-osseous lesions, although sharing similar microscopic features, exhibit a variety of clinical behaviour rendering their treatment highly individualized.

Benign fibro-osseous lesions: clinicopathologic features from 143 cases diagnosed in an oral diagnosis setting.

OBJECTIVE: The aim of this study was to report the clinicopathologic and radiologic features of 143 benign fibro-osseous lesions (BFOLs). STUDY DESIGN: Clinical and radiologic information were retrieved from the patients files, and histologic features were reviewed from hematoxylin and eosin-stained histologic slides. RESULTS: There were 22 ossifying fibromas (OFs), 21 fibrous dysplasias (FDs) and 100 osseous dysplasias (ODs; 65 florid, 18 focal, and 17 periapical). The mean age of the FD/OF patients was a decade lower than those with OD. The mandible was more affected than the maxilla, except in FDs. All FDs and OFs presented local swelling, whereas this was observed in <40% of the ODs. Radiologic images of the florid/periapical ODs and OFs were predominantly mixed, whereas FDs and focal ODs were predominantly radiopaque. CONCLUSIONS: Florid OD, OF, and FD were the most common diagnoses, and the clinicopathologic and radiologic features were somewhat distinct from the characteristics of other populations.

Sleep disordered breathing, insomnia symptoms, and sleep quality in a clinical cohort of U.S. Hispanics in south Florida.

STUDY OBJECTIVES: There is a paucity of information on the epidemiology of sleep disorders among US Hispanics. This study describes the frequency of sleep disordered breathing (SDB) risk, insomnia complaints, poor sleep quality, and daytime somnolence in a clinical cohort of ethnically diverse US Hispanics living in South Florida. METHODS: We explored the presence of sleep disorders in a cohort of Hispanics seen at primary care, pulmonary, and sleep clinics at the University of Miami and Miami Veterans Affair Medical Center. Participants completed validated questionnaires, evaluating risk of SDB, presence of insomnia symptoms, sleep quality, and daytime sleepiness. Polysomnography was completed on the majority of the sleep clinic participants. RESULTS: Participants (N = 282; 62% male; mean age 54 ± 15 years; mean BMI 31 ± 6 kg/m(2)) included Hispanics of Cuban, Puerto Rican, Central/South American, and Caribbean heritage. Excessive daytime sleepiness was noted by 45% of participants. Poor sleep quality was reported by 49%; 76% screened high risk for SDB, and 68% had insomnia symptoms. Sleep disorders were more commonly reported in sleep clinic participants; however, 54% of non-sleep clinic participants were high risk for SDB, 35% had insomnia complaints, 28% had poor sleep quality, and 18% reported daytime sleepiness. CONCLUSIONS: Sleep disorders (including SDB) are common in clinical samples of Hispanics in South Florida. These findings highlight the urgent need for linguistically relevant and culturally responsive screening, awareness and education programs in clinical sleep medicine among US Hispanics. CITATION: Shafazand S; Wallace DM; Vargas SS; Del Toro Y; Dib S; Abreu AR; Ramos A; Nolan B; Baldwin CM; Fleming L. Sleep disordered breathing, insomnia symptoms, and sleep quality in a clinical cohort of US Hispanics in South Florida. J Clin Sleep Med 2012;8(5):507-514.

Osteofibrous dysplasia and adamantinoma.

Osteofibrous dysplasia (OFD) is a rare, benign, fibro-osseous lesion that typically is seen within the cortex of the tibia in children. Adamantinoma (AD) is a rare, low-grade malignant primary bone tumor that occurs most often in the tibia and/or fibula of adolescent persons and young adults; however, it has been reported in other long bones, as well. Immunohistochemical and ultrastructural evidence has shown that the neoplastic cell in AD derives from an epithelial lineage. More recently, published reports have described another clinical entity-differentiated or OFD-like AD-that appears to lie between OFD and AD along a spectrum of disease. Controversy exists as to whether OFD is a precursor lesion to AD or whether OFD may be a residual lesion resulting from a spontaneously regressing AD. Management of OFD varies from observation to surgical intervention, depending on the age of the patient and the extent of the lesion. Management of AD requires surgical resection with wide margins, followed by appropriate reconstruction, to minimize the risk of local recurrence or metastasis.

Fibrous dysplasia of skull.

BACKGROUND AND OBJECTIVE: Fibrous dysplasia (FD) is a kind of benign but chronically progressive bone lesion. There is a lack of standard therapy for craniofacial FD because situations are protean. This study aimed at analyzing the clinical characteristics of craniofacial FD and suggesting strategies of treatment according to different situations. PATIENTS AND METHODS: We retrospectively reviewed 81 patients diagnosed as having an FD of the craniofacial region in West China Hospital between 1996 and 2009. The data and follow-up information were collected and analyzed using SPSS 13.0. RESULTS: Patients were between 5 to 71 years old, with an average age of 23.94 years; 61.73% of the patients were female. The sizes of the lesion range from 1.5 x 2 cm to 15 x 10 cm, most commonly affecting the frontal bones. Painless mass was the most common symptom, and vision loss was the most serious result. Of these patients, 86.4% underwent surgical treatment, 65.4% were followed up, and 86.8% did not show sign of recurrence. The bone defect was best restored with titanium mesh in recent years, and the gross cosmetic results of cranial reconstruction were favorable. CONCLUSIONS: Fibrous dysplasia of the skull in most cases is preferred to be treated with whole excision and immediate reconstruction with titanium mesh.

[Primary bone tumors of the orbit]. / Tumeurs primitives des parois osseuses orbitaires.

Primary orbital bone tumors account for 0.6-2% of all orbital tumors. This is a heterogeneous group of tumors arising from osseous, cartilaginous, fibrous, and vascular tissues. The two most commonly encountered lesions are fibrous dysplasia and osteoma. Treatment of the primitive orbital bone tumors is generally surgical.

Fibrous dysplasia: a systematic review.

OBJECTIVES: To evaluate the principal features of fibrous dysplasia (FD) by systematic review (SR) and to compare their frequencies between four global groups. METHODS: The databases searched were the PubMed interface of Medline and LILACS. Only those reports of FD which occurred in a series in the reporting authors' caseload were considered. All cases were confirmed fibro-osseous lesions histopathologically. The SR-included series must also have included radiographs. RESULTS: Of the 106 reports considered (including the Hong Kong report), 31 reports and a total of 788 cases were included in the SR. 11 SR-included series were in languages other than English. FD affected both genders equally, but was 50% more prevalent in the maxilla. The mean age at first presentation was 24 years. The decade with the greatest frequency was the second, in which males accounted for 63%. The main symptom in 90% of all SR-included cases was swelling (including deformation of the jaws). Not one SR-included case directly involved the ocular apparatus. All cases displayed buccolingual expansion; all mandibular cases exhibited downward displacement of the lower border of the mandible and almost all maxillary cases involved the maxillary antrum. Only 35% of reports included follow-up; 18% of cases recurred or were reactivated. Not one case displayed sarcomatous change. CONCLUSIONS: Long-term follow-up of large series that would have revealed the long-term outcomes of FD was lacking. This is necessary because many cases do not burn out at the end of adolescence, as expected of a hamartoma, but are reactivated.

Clinicopathological study of non-neoplastic lesions of nasal cavity and paranasal sinuses.

An analysis of cases presenting as mass in nasal cavity (NC), paranasal sinuses (PNS), and nasopharynx (NP) was done over a period of 7 years in Jawaharlal Nehru Medical College, Aligarh. A provisional diagnosis was made after clinical assessment and radiological investigations, but final diagnosis was made after histopathological examination. The incidence of masses in NC, PNS, and NP was 34.3 cases per year, non-neoplastic lesions constituted 60% of these cases and their incidence was 20.7 cases per year. All the cases were carefully examined histopathologically and it was found that the region was affected by a variety of non-neoplastic lesions. Among 240 cases, 145 were non-neoplastic and 95 were neoplastic The lesions in the decreasing order of frequency were - nasal polyp, rhinoscleroma, tuberculosis, fungal infection, fibrous dysplasia, ossifying fibroma, cysts, nasal glioma, and cemento-ossifying fibroma. NP was involved by a range of neoplastic lesions; however, no non-neoplastic lesion was seen in this region.

Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions.

UNLABELLED: To determine the prevalence, distribution, age-related changes and treatment of pain in fibrous dysplasia, we studied 78 children and adults. Pain was common, more prevalent and intense in adults, sometimes requiring narcotic analgesia. It was often untreated, especially in children, and surprisingly severity did not correlate with skeletal disease burden. INTRODUCTION: Pain is common in fibrous dysplasia (FD), but relatively unstudied. We studied a well-characterized population of patients with a spectrum of disease. METHODS: Thirty-five children (16 male, 19 female, mean age 11.4 (range 5-18)) and 43 adults (15 male, 28 female, 23-62 yrs, mean age 40.3 (range 23-62)) were studied. Bone scans were used to identify the location and extent of disease. The Brief Pain Inventory was used to determine severity. RESULTS: Pain at sites of FD was common, reported by 67% of the population, but more prevalent and severe in the adult group than the children (81% and 49%, respectively p < 0.005, severity 4.1/10, and 2.8/10, respectively, p < 0.01). Surprisingly, there was no correlation between pain severity and skeletal disease burden. Children were more likely than adults to be untreated for pain (44% vs. 26%). CONCLUSIONS: Pain, which was sometimes severe, was common in subjects with FD. It was often un- or under-treated, especially in children. The prevalence and severity of pain was greater in the adult group, but unrelated to the burden of FD.

Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation.

OBJECTIVE: Fibrous dysplasia (FD) of bone may occur solely as a skeletal condition or it may occur in association with extraskeletal manifestations, including growth hormone (GH) excess. Uncertainty exists as to the management of FD involving the optic nerves. In an effort to clarify management, the authors studied a large population of patients. METHODS: One hundred four patients underwent an evaluation that included review of records, endocrine testing, cranial computed tomography, and neuro-ophthalmological examination. RESULTS: Ninety-one of 104 patients had craniofacial FD; complete records were available for 87 patients (174 nerves). Seventeen percent of the optic nerves were less than 50% encased, 22% were 50 to 99% encased, and 61% were 100% encased. Twelve percent of the nerves that were 100% encased showed evidence of optic neuropathy, but 88% did not. The group with optic neuropathy was not older than the group without. Patients with GH excess were significantly more likely to have nerves that were 100% encased (relative risk, 4.1; 95% confidence interval, 1.5-11.1; P = 0.0017) and to have optic neuropathy (relative risk, 3.8; 95% confidence interval, 2.0-7.1; P = 0.0019). Six prophylactic optic nerve decompressions were performed; in five patients, vision was stable after surgery, and one patient was blind after surgery. Thirteen interventional optic nerve decompression procedures were performed; six of the 13 patients showed some improvement and seven of the 13 showed no improvement or worsened vision. CONCLUSION: The vast majority of optic nerves encased with FD do not exhibit symptoms of optic neuropathy and seem to be stable over time. GH excess is associated with increased risk of nerve encasement and optic neuropathy. Patients with craniofacial FD should be screened for GH excess, and optic nerve decompression should be performed only when there is objective evidence of progressive optic neuropathy.