[Fibrous dysplasia]. / Fibröse Dysplasie.

Fibrous dysplasia is a sporadically occurring benign skeletal disease characterized by the replacement of normal bone tissue with excessively proliferating cellular fibrous tissue. It can occur in a monostotic or polyostotic form. Depending on the location, number and size of the lesions, the clinical picture can vary from an asymptomatic disease to a severe disability. Typical problems are bone pain, bone deformities and pathological fractures. In combination with endocrinopathies and/or skin manifestations (café au lait spots), it is referred to as the McCune-Albright syndrome. The diagnosis is mainly carried out radiologically and the bony lesions are characterized by a cloudy, frosted glass-like aspect. Causal treatment is not possible. Orthopedic treatment includes pain relief, bone stabilization, deformity correction and, if necessary, lesion cleansing as well as the prevention of progression by means of antiresorptive medication. Pathological fractures are preferably stabilized with intramedullary osteosynthesis procedures.

Phenotyping Pain in Patients With Fibrous Dysplasia/McCune-Albright Syndrome.

CONTEXT: Pain is a poorly managed aspect in fibrous dysplasia/McCune-Albright syndrome (FD/MAS) because of uncertainties regarding the clinical, behavioral, and neurobiological underpinnings that contribute to pain in these patients. OBJECTIVE: Identify neuropsychological and neurobiological factors associated with pain severity in FD/MAS. DESIGN: Prospective, single-site study. PATIENTS: Twenty patients with FD/MAS and 16 age-sex matched healthy controls. INTERVENTION: Assessments of pain severity, neuropathic pain, pain catastrophizing (pain rumination, magnification, and helplessness), emotional health, and pain sensitivity with thermal quantitative sensory testing. Central nervous system (CNS) properties were measured with diffusion tensor imaging, structural magnetic resonance imaging, and functional magnetic resonance imaging. MAIN OUTCOME MEASURES: Questionnaire responses, detection thresholds and tolerances to thermal stimuli, and structural and functional CNS properties. RESULTS: Pain severity in patients with FD/MAS was associated with more neuropathic pain quality, higher levels of pain catastrophizing, and depression. Quantitative sensory testing revealed normal detection of nonnoxious stimuli in patients. Individuals with FD/MAS had higher pain tolerances relative to healthy controls. From neuroimaging studies, greater pain severity, neuropathic pain quality, and psychological status of the patient were associated with reduced structural integrity of white matter pathways (superior thalamic radiation and uncinate fasciculus), reduced gray matter thickness (pre-/paracentral gyri), and heightened responses to pain (precentral, temporal, and frontal gyri). Thus, properties of CNS circuits involved in processing sensorimotor and emotional aspects of pain were altered in FD/MAS. CONCLUSION: These results offer insights into pain mechanisms in FD/MAS, while providing a basis for implementation of comprehensive pain management treatment approaches that addresses neuropsychological aspects of pain.

Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

BACKGROUND: Malignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence. METHODS: We present the detailed clinical course of three cases of osteosarcoma arising from FD of the jaws and explore the genetic aberrations by Sanger sequencing, whole-exome sequencing (WES) and immunohistochemistry (IHC). A literature review of important topics related to this occurrence was also performed. RESULTS: It was observed that patients with secondary sarcoma from FD showed a wide range of ages, with most during the third decade. Female and males were equally affected. Craniofacial bones and femurs were the most affected sites. High-risk factors for this occurrence included polyostotic FD, McCune-Albright syndrome and excess growth hormone. Notably, a potential relationship between thyroid hormones and sarcoma development was suggested in one patient, who began to show malignant features after hypothyroidism correction. Sanger sequencing revealed GNAS mutations of FD retained in all malignant tissues. Additionally, abnormal TP53 was demonstrated in all three cases by WES and IHC. WES also revealed two other driver mutations, ROS1 and CHD8, and large amounts of somatic copy number alterations (CNAs) where various oncogenes and tumour suppressors are located. CONCLUSION: This study demonstrated and reviewed the clinical features and risk factors for a rare occurrence, secondary sarcoma from FD, and provided important new knowledge about its genetics.

Fibrous dysplasia patients with and without craniofacial involvement report reduced quality of life inclusive of stigma, depression, and anxiety.

OBJECTIVES: Fibrous dysplasia is a rare bone disorder that causes deformity, fractures, and pain that typically manifests in childhood and persists as a chronic illness. This study evaluates adult patients with fibrous dysplasia and McCune Albright syndrome to determine whether their quality of life differs from the general population and varies in relation to disease severity and lesion location. METHODS: This study uses data from the online self-report Fibrous Dysplasia Foundation Patient Registry and operationalizes quality of life using PRO measures: SF-36, Hospital Anxiety and Depression scale, Neuro-Quality of Life Stigma scale, and the Brief Pain Inventory. RESULTS: One hundred and ninety seven adults, 90% white, 84% women, constitute the sample. Mean scores for all SF-36 domains and the Neuro Q stigma scale were significantly below population benchmarks. A large minority registered moderate to severe levels of anxiety and depression. Group differences were not significant across most of the SF-36 domains but were associated with experienced stigma. DISCUSSION: This study demonstrates a social psychological impact of fibrous dysplasia on adults, in those with and without craniofacial involvement and with mild and severe forms of the disease. Clinical treatment should encompass assessment of quality of life issues and ensure access to psychosocial treatment resources for all fibrous dysplasia/McCune-Albright syndrome patients.

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.

[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].

McCune-Albright-Braitsev Syndrome (MAB syndrome) is a very rare multisystem disease manifested by fibrous bone dysplasia, coffee-and-milk colored spots, hyperfunction of various endocrine glands and a number of pathologies of other body systems. We present a description of a clinical case of a severe progressive course of MAB Syndrome in a nine-year-old girl. With this diagnosis, the girl is observation of the girl began when she was 2.5 years old, when spots of coffee-and-milk, polyosseous fibrous dysplasia, peripheral premature sexual development against a backdrop of estrogen--secreting ovarian cysts, multinodular goiter were detected. In the process of dynamic observation, it was noted that the child's active growth stopped against a backdrop of deformities of the skeletal system with multiple repeated fractures of the extremities; progression of skull deformity with stenosis of the optic nerve canals and deterioration of visual acuity; development of STH hypersecretion, hypophosphatemic rickets, tachycardia. Appropriate suppressive / replacement therapy was prescribed for each of the endocrine dysfunctions. The article presents algorithms for examining a girl in dynamics, criteria for choosing a component-wise management tactics and a discussion of the features of the course of all manifestations of the Syndrome.

Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.

Mutations occurring during embryonic development affect only a subset of cells resulting in two or more distinct cell populations that are present at different levels, also known as postzygotic mosaicism (PZM). Although PZM is a common biological phenomenon, it is often overlooked as a source of disease due to the challenges associated with its detection and characterization, especially for very low-frequency variants. Moreover, PZM can cause a different phenotype compared to constitutional mutations. Especially, lethal mutations in receptor tyrosine kinase (RTK) pathway genes, which exist only in a mosaic state, can have completely new clinical manifestations and can look very different from the associated monogenic disorder. However, some key questions are still not addressed, such as the level of mosaicism resulting in a pathogenic phenotype and how the clinical outcome changes with the development and age. Addressing these questions is not trivial as we require methods with the sensitivity to capture some of these variants hidden away in very few cells. Recent ultra-accurate deep-sequencing approaches can now identify these low-level mosaics and will be central to understand systemic and local effects of mosaicism in the RTK pathway. The main focus of this review is to highlight the importance of low-level mosaics and the need to include their detection in studies of genomic variation associated with disease.

Severe Fibrous Dysplasia in McCune-Albright Syndrome: A Need for Continuous Surveillance.

INTRODUCTION: McCune-Albright syndrome (MAS) is a rare condition, in which GNAS mutations affect multiple organs. Fibrous dysplasia (FD), affecting only one or multiple skeletal territories, may severely affect craniofacial structures. Concomitant occurrence of acromegaly aggravates skull deformity, leading to eye, ear, and posterior cranial fossa compromise. CASE PRESENTATION: A 30-year-old man diagnosed with MAS at the age of 3 developed almost all known complications of the syndrome. The craniofacial component of his polyostotic FD increased over time, aggravated by difficult to control acromegaly. Acute onset of severe headache and neurologic compromise, caused by subarachnoid haemorrhage, caused his demise. Post-mortem examination revealed a meningeal artery aneurysm caused by disruption of the intracranial vasculature by severe bone disease. Adrenal histology revealed nodular hyperplasia without clinical evidence of hypercortisolism. DISCUSSION: The post-mortem findings described aid understanding of the multiorgan involvement of MAS, providing new insights into possible pathogenetic mechanisms underlying the systemic effects of GNAS mutations, and highlight a need for systematic surveillance for cerebrovascular changes in craniofacial FD that may be amenable to intervention to avoid catastrophic outcome.

Increasing serum alkaline phosphatase is associated with bone deformity progression for patients with polyostotic fibrous dysplasia.

BACKGROUND: Fibrous dysplasia (FD) is a rare bone disorder in which normal intramedullary bone is replaced by fibro-osseous tissue, which is complicated by the progression of Shepherd's crook deformity. How to predict the progression of Shepherd's crook deformity is still a challenging for the orthopedic surgeon. METHODS: A total of 159 cases were reviewed in the retrospective study between January 2000 and September 2016. Clinical and monitoring data were collected. We analyzed the correlationship between the bone turnover markers and other parameters (age, gender, FD type, deformity, BMI, and lesion location). RESULTS: Age, gender, lesion location, lesion type, and shepherd's crook deformity had a close relationship with preoperative ALP level in the univariate analysis, and the multivariate analysis showed age, gender, lesion type, and shepherd's crook deformity had the significant relationship with the preoperative serum ALP level. The surgery could remove the bone lesion and suppressed the abnormal bone metabolism. Furthermore, the preoperative ALP level of FD patients with the shepherd's crook deformity was obviously higher than that without deformity, and the preoperative calcium and phosphorus levels of FD patients with deformity were significantly lower than that without deformity. Notably, for some patients with progression of the shepherd's crook deformity during the follow-up, ALP increased to the high level and at that time X-ray showed the shepherd's crook deformity severely progressing. CONCLUSIONS: PFD with higher serum ALP level has obvious tendency to progress severely, and risk factors of progression to the deformity are the condition of bony metabolism and FD type. The deformity of PFD may be related to high speed of bone turnover, which is exactly reflected by the levels of serum ALP and calcium. Evaluation of patients with FD should include a thorough evaluation of calcium/phosphate metabolism and bone turnover.

Radiographic Follow-Up of Fibrous Dysplasia in 138 Patients.

OBJECTIVE. The purpose of this study was to explore the temporal changes in fibrous dysplasia (FD) at radiographic follow-up. MATERIALS AND METHODS. A total of 138 patients with FD who had undergone extremity radiography at least twice with a minimum 12-month interval between examinations were enrolled in this study. FD was monostotic in 99 patients and polyostotic in 39 patients. Patients were also classified according to skeletal maturity as follows: Patients 16 years old or younger were classified in the skeletally immature group (n = 34), and patients 17 years old or older were classified in the skeletally mature group (n = 104). We compared the initial and follow-up radiographs for the following findings: lesion size, opacity, sclerotic rim, calcification, and trabeculation. RESULTS. Of the 138 patients, radiographic follow-up showed no change in lesion size in 101 patients (73.2%), progression in 31 (22.5%), and regression in six (4.3%). FD in immature bones progressed more often than FD in mature bones (23/34 [67.6%] vs 8/104 [7.7%], respectively; p = 0.000), and polyostotic FD had a greater chance of regressing than monostotic FD (4/39 [10.3%] vs 2/99 [2.0%]; p = 0.032). A temporal change in FD lesion opacity was noticed in a minority of patients (19/138, 13.8%). Variable changes were observed in the sclerotic rim, calcification, and trabeculation. CONCLUSION. The radiographic follow-up of FD showed that approximately a quarter of lesions changed in size over time. Regardless of the change in lesion size, opacity and several morphologic features of FD changed during the follow-up period, which might reflect the histopathologic evolution of FD.

Bilateral Dysplastic Gangliocytoma with Concurrent Polyostotic Fibrous Dysplasia: A Case Report and Literature Review.

BACKGROUND: Dysplastic gangliocytoma is a sporadic cerebellar benign tumor with the characteristics of hamartoma and true tumor, also known as Lhermitte-Duclos disease (LDD). Bone fibrous dysplasia (FD) is a slowly progressive self-limited benign bone tissue disease. Cowden syndrome, an autosomal dominant genetic disorder caused by germline mutations in the PTEN gene, is considered to be closely related to dysplastic gangliocytoma. McCune-Albright syndrome is a disease characterized by café-au-lait skin macules, polyostotic FD, and precocious puberty. The etiologic mechanism of both conditions is not yet clear. We report a rare case of bilateral dysplastic gangliocytoma with concurrent polyostotic FD. CASE DESCRIPTION: We describe a 16-year-old boy with both LDD and FD. He presented for medical examination with headache and poor eyesight. Magnetic resonance imaging revealed proliferation of the skull and abnormal signals in the cerebellum, and supratentorial hydrocephalus. Subtotal resection of the cerebellar tumor was performed, and the diagnosis of LDD and FD was confirmed by histopathology. No other abnormal changes were found in systemic medical examination and no PTEN gene mutation was found in the genetic analysis; therefore, the diagnoses of Cowden syndrome and McCune-Albright syndrome were excluded. CONCLUSIONS: LDD and FD are 2 rare diseases, and the simultaneous occurrence of the 2 conditions has not been reported before, to our knowledge. Our report challenges the etiology of the 2 diseases and the relationship between them, hoping to provide a reference for the study of the 2 diseases.

McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years.

BACKGROUND AND OBJECTIVE: Gastrointestinal (GI) polyps with unknown malignant potential and a platelet storage pool deficiency that increases the risk of severe intraoperative and other types of bleeding have been identified in McCune-Albright syndrome (MAS). The natural course of these disorders has not been well characterized. The aim of this study was to report the follow-up of GI polyps and platelet dysfunction (PD) in a cohort of 28 patients with MAS. METHODS: Twenty-eight patients with MAS (15 females) were included. Endoscopic screening for GI polyps was undertaken in 14 subjects and 19 were tested for PD. RESULTS: Six subjects (5 males) were diagnosed with GI polyps at a median age of 23 (range 15-43) years, and were monitored for a median period of 8 (range 4.5-11.5) years. At endoscopic follow-up, the 4 patients with hamartomatous polyps at first endoscopy had either normal findings (n = 2), or duodenal gastric metaplasia (n = 2). Two patients with caecal polyps were identified. Of 8 subjects with a platelet storage pool deficiency, 5 required transfusions during surgery, and subsequent platelet cover in 2 markedly reduced intraoperative blood loss. CONCLUSIONS: New polyps with uncertain malignant potential are diagnosed after long term follow-up in MAS. Platelet cover reduces the need for red blood cell transfusion during orthopaedic surgery and may be useful to reduce non-operative bleeding events. We recommend regular upper and lower endoscopy and screening for PD in all MAS patients.

Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation.

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic Gα s activation and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype is largely determined by the location and extent of affected tissues, and the pathophysiological effects of Gα s activation within these tissues. In bone, Gα s activation results in impaired differentiation of skeletal stem cells, leading to discrete skeletal lesions prone to fracture, deformity, and pain. Extraskeletal manifestations include a variable combination of hyperpigmented macules and hyperfunctioning endocrinopathies. Distinctive age-related changes in disease development has key effects on histologic, radiographic, and clinical features. FD/MAS thus presents along a uniquely broad clinical spectrum, and the resulting challenges in diagnosis and management can be difficult for clinicians. This review presents FD/MAS in the context of a mosaic disorder of Gα s activation, providing an intellectual framework within which to understand, evaluate, and treat this interesting disease. It includes a comprehensive summary of current understanding of FD/MAS pathogenesis, and a detailed discussion of clinical presentation and management. Critical areas of unmet need are highlighted, including discussion of key challenges and potential solutions to advance research and clinical care in FD/MAS.

Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome.

BACKGROUND: Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with McCune-Albright syndrome has been well-described, however long-term effects on gynecologic and reproductive function are unknown. Concerningly, case reports have described poor skeletal outcomes associated with pregnancy in women with fibrous dysplasia. METHODS: Thirty-nine women with fibrous dysplasia/McCune-Albright syndrome were evaluated as part of a natural history study. Clinical, radiographic, and biochemical data were reviewed. Women were contacted to obtain detailed menstrual and reproductive histories. RESULTS: Abnormal uterine bleeding affected 77% of women (30/39), and was associated with severe anemia requiring blood transfusion in 3 cases. Nine women underwent hysterectomy for management of bleeding, including 67% (6/9) at the unusually young age of less than age 35 years. Infertility affected 43% of women (9/21), including 2 women who developed primary ovarian insufficiency after undergoing surgical treatment of ovarian cysts. Of 25 spontaneous pregnancies in 14 women, 35% (8) were unplanned. Among the 14 pregnancies, pregnancy was associated with no change in bone pain in 7 subjects (53%), increased bone pain in 4 subjects (31%), and decreased bone pain in 2 subjects (15%). No additional skeletal complications were reported during pregnancies. CONCLUSIONS: Women with fibrous dysplasia/McCune-Albright syndrome report a high prevalence of gynecologic morbidity and reduced fertility. There is no clear association between pregnancy and poor skeletal outcomes in this population.

Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy).

OBJECTIVE: To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. MATERIALS: A skeletonized cranium and mandible recovered from an ossuary in 2014. METHODS: Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. RESULT: The skeleton is believed to be an adult male. Differential diagnoses include Paget's disease, McCune-Albright syndrome, osteochondroma and osteosarcoma. The radiographic findings, along with the solitary nature of the lesions, are strong evidence for the diagnosis of fibrous dysplasia (FD). Genetic analysis further revealed a frequency of ˜1% of mutant alleles with the R201C substitution, one of the post-zygotic activating mutation frequently associated with FD. CONCLUSIONS: The multi-analytical method employed suggests a diagnosis of monostotic form of FD. The diagnostic design incorporates multiple lines of evidence, including macroscopic, histopathological, and genetic analyses. SIGNIFICANCE: Through the use of a multi-analytic approach, robust diagnoses can be offered. This case serves as one of the oldest examples of FD from an historical context. The genetic mutation detected, associated with FD, has not been previously reported in historical/ancient samples.

Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study.

BACKGROUND: Mazabraud syndrome is a rare disorder, characterized by the presence of fibrous dysplasia (FD) with associated intramuscular myxomas. Data are scarce on the prevalence, clinical features, and natural history of this disorder and outcomes. In this multicenter study, we evaluated a series of patients from 6 European centers. METHODS: All centers affiliated with the European Musculo-Skeletal Oncology Society (EMSOS) were invited to include data on all patients with Mazabraud syndrome who were seen between 1980 and 2015. The study investigated the prevalence of Mazabraud syndrome, the type, severity, and localization of FD lesions in relation to myxomas, the histopathology of myxomas, and results of GNAS-mutation analysis, when available. RESULTS: Thirty-two patients (22 female) from 6 centers were included. The prevalence of Mazabraud syndrome was 2.2% in the combined cohort of 1,446 patients with FD, and the syndrome was diagnosed at a mean of 10.1 years after diagnosis of FD. The myxomas were predominantly localized in the upper leg. Excision was performed in 20 patients, recurrence occurred in 6 of these patients (30%) at a median of 8.5 years (range, 1.9 to 16.0 years), and revision surgery was necessary in 5 (25%). High cellularity of myxomas was associated with recurrence (p < 0.05). A GNAS mutation was identified in the myxoma tissue of 5 (83%) of 6 patients with GNAS-mutation analysis. CONCLUSIONS: This study is the first, to our knowledge, to provide data on the prevalence of Mazabraud syndrome in a relatively large cohort. Although the outcomes of surgical resection were good, a quarter of the patients required revision surgery despite clear resection margins. High cellularity of myxomas was associated with recurrence. GNAS mutations were identified in 83% (5 of 6), emphasizing the shared origin of FD and myxomas. Our data show that patients with FD who have disproportionate complaints, irrespective of FD type, extent, or severity, should be investigated for the possible presence of myxomas. LEVEL OF EVIDENCE: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.

Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. An acute obstructive hydrocephalus due to a 39 × 35-mm cystic lesion in the third ventricle was discovered and operated, obtaining hydrocephalus resolution. Pathology described a colloid cyst material and a growth hormone-secreting pituitary adenoma. Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis. Adequate hormonal control was achieved postoperatively. Our results suggest that long-term untreated growth hormone excess in patients with MAS-related craniofacial fibrous dysplasia might end compromising cerebrospinal fluid flow. A prompt diagnosis and coordinated multidisciplinary treatment may help to avoid long-term deleterious impact of hyperfunctioning endocrinopathies in these patients.

Individualized approach to the surgical management of fibrous dysplasia of the proximal femur.

BACKGROUND: Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical approaches. However, to date there are no clear recommendations to guide the choice of surgical approach and no general guidelines for the optimal orthopedic management of these lesions. The objective of this study was to evaluate treatment outcomes of angled blade plates and intramedullary nails, using as outcome indicators revision-free survival, pain, function and femoral neck-shaft-angle. Based on a review of published literature and our study findings, we propose a treatment algorithm, taking into account different factors, which may play a role in the selection of one surgical approach over another. METHODS: Data were evaluated in thirty-two patients (18 male) from a combined cohort from the Netherlands and Austria, who had a surgical intervention using an angled blade plate (n = 27) or an intramedullary nail (n = 5) between 1985 and 2015, and who had a minimal follow-up of one year. The primary outcome was success of the procedure according to the revised Henderson classification. Secondary outcomes, which were assessed at one year and at the end of follow-up included: function (as measured by walking ability), pain and change in femoral neck-shaft angle over time. RESULTS: Analysis of data showed that revision-free survival was 72% after a median follow-up of 4.1 years. Revision was necessary in two patients for structural failure due to a fracture distal to an angled blade plate and in 7 patients due to angled blade plate-induced iliotibial tract pain. At the end of follow-up 91% of all patients had good walking ability and 91% were pain free. There was no significant postoperative change in femoral neck shaft angle. CONCLUSION: Our data show that fibrous dysplasia of the proximal femur can be adequately and safely treated with angled blade plates or intramedullary nails, providing these are used according to specific characteristics of the individual patient. Based on published literature and our own experience, we propose an individualized, patient-tailored approach for the surgical management of fibrous dysplasia of the proximal femur.

3D cinematic rendering of the calvarium, maxillofacial structures, and skull base: preliminary observations.

Three-dimensional (3D) visualizations of volumetric data from CT have gained widespread clinical acceptance and are an important method for evaluating complex anatomy and pathology. Recently, cinematic rendering (CR), a new 3D visualization methodology, has become available. CR utilizes a lighting model that allows for the production of photorealistic images from isotropic voxel data. Given how new this technique is, studies to evaluate its clinical utility and any potential advantages or disadvantages relative to other 3D methods such as volume rendering have yet to be published. In this pictorial review, we provide examples of normal calvarial, maxillofacial, and skull base anatomy and pathological conditions that highlight the potential for CR images to aid in patient evaluation and treatment planning. The highly detailed images and nuanced shadowing that are intrinsic to CR are well suited to the display of the complex anatomy in this region of the body. We look forward to studies with CR that will ascertain the ultimate value of this methodology to evaluate calvarium, maxillofacial, and skull base morphology as well as other complex anatomic structures.