Osteofibrous dysplasia: a narrative review.

Osteofibrous dysplasia (OFD) is a rare, benign, self-limited bone disorder with a relatively low incidence, accounting for approximately 0.2% of all primary bone tumors. It was frequently found intra-cortical of the mid-shaft of the tibia. OFD can also occur in other skeletal regions, including the fibula, ulna, radius, femur, humerus, ischium, rib, tarsus, metatarsals, vertebral, and capitate. OFD can present with asymptomatic, mass, pain, swelling, deformity, and even pathological fracture. OFD might be misdiagnosed as adamantinoma (AD) and because they are three subtypes origin from the same family of bone tumors and have similar imaging features. Moreover, pathology could provide evidence for an accurate diagnosis of OFD, but misdiagnosis may occur due to small sampling materials. To date, few studies have comprehensively introduced the epidemiology, clinical manifestations, pathogenesis, radiological features, pathology, and treatment for OFD. We herein discuss clinical signs, diagnosis methods, and treatment options of OFD to improve the understanding of OFD, which is helpful for accurate diagnosis and appropriate treatment.

Life span care for patients with skeletal dysplasia: A roadmap.

Patients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which patients with skeletal dysplasia face challenges will change and the focus and frequency of the interdisciplinary care should change accordingly. Thorough understanding of the specific characteristics of different skeletal dysplasias is required to create an individualized efficient interdisciplinary screening and care program. This paper presents the current structure and rationale of the interdisciplinary screening and care program of the skeletal dysplasia expert center of the University Medical Center Utrecht in the Netherlands. It is presented here, tailored to osteogenesis imperfecta, but the structure of the program is generic for all skeletal dysplasias.

Osteofibrous dysplasia of the tibia : the importance of deformity in surveillance.

AIMS: Osteofibrous dysplasia (OFD) is a rare benign lesion predominantly affecting the tibia in children. Its potential link to adamantinoma has influenced management. This international case series reviews the presentation of OFD and management approaches to improve our understanding of OFD. METHODS: A retrospective review at three paediatric tertiary centres identified 101 cases of tibial OFD in 99 patients. The clinical records, radiological images, and histology were analyzed. RESULTS: Mean age at presentation was 13.5 years (SD 12.4), and mean follow-up was 5.65 years (SD 5.51). At latest review, 62 lesions (61.4%) were in skeletally mature patients. The most common site of the tibial lesion was the anterior (76 lesions, 75.2%) cortex (63 lesions, 62.4%) of the middle third (52 lesions, 51.5%). Pain, swelling, and fracture were common presentations. Overall, 41 lesions (40.6%) presented with radiological deformity (> 10°): apex anterior in 97.6%. A total of 41 lesions (40.6%) were treated conservatively. Anterior bowing < 10° at presentation was found to be related to successful conservative management of OFD (p = 0.013, multivariable logistic regression). Intralesional excision was performed in 43 lesions (42.6%) and a wide excision of the lesion in 19 (18.8%). A high complication rate and surgical burden was found in those that underwent a wide excision regardless of technique employed. There was progression/recurrence in nine lesions (8.9%) but statistical analysis found no predictive factors. No OFD lesion transformed to adamantinoma. CONCLUSION: This study confirms OFD to be a benign bone condition with low rates of local progression and without malignant transformation. It is important to distinguish OFD from adamantinoma by a histological diagnosis. Focus should be on angular deformity, monitored with full-length tibial radiographs. Surgery is indicated in symptomatic patients and predicted by the severity of the initial angular deformity. Surgery should focus more on the deformity rather than the lesion. Cite this article: Bone Joint J 2022;104-B(2):302-308.

Current state of the art in treatment of Mendelian disease: Skeletal dysplasias.

The current state of the art in treatment of Mendelian disease, specifically skeletal dysplasias, benefits tremendously from Dr. Victor McKusick's early delineation and standardization of the nomenclature surrounding these conditions. Through close observation and careful description of each dysplasia to flesh out the nosologic backbone of the genetic skeletal disorders, individuals with the same diagnosis were identified and grouped together for genetic interrogation. These efforts have resulted in the identification of the genetic etiology of nearly all recognized skeletal disorders. This, in turn, is leading to disease-specific treatment for many of the skeletal dysplasias in this new era of precision medicine. Furthermore, Dr. McKusick's natural history descriptions of many genetic skeletal disorders helped to establish the baseline disease state against which the effect of new treatment is compared.

Musculoskeletal deformities after thoracic surgery in children: An observational long-term follow-up study.

PURPOSE: This study reports the incidence, severity, and predictors of musculoskeletal deformities (MD), including scoliosis and chest wall anomalies, following thoracic procedures in children. METHODS: Children younger than 14 years who had thoracic surgery between 1997 and 2012 and had no other predispositions to MD, underwent longitudinal follow-ups with dedicated musculoskeletal examination performed in an esophageal atresia, orthopedic, or research clinic. Incidence of MD was calculated, and logistic regression methods were used to determine independent predictors, including sex, gestational age, age at procedure, serratus anterior muscle division, and chest tube placement. RESULTS: The study cohort consisted of 104 patients followed for a median of 10.8 years (range 3-21). A total of 56 MD developed in 41 patients (39%), including scapular winging (24; 23%), scoliosis (17; 16%), and chest wall anomalies (15; 14%). The majority of MD were subclinical, with only 8 patients [8% (6 thoracotomies, 2 thoracoscopies)] requiring intervention. Among patients who underwent thoracotomies (93, 89%), serratus anterior muscle division was the only significant predictor of the development of MD [OR 8.9; 95% CI 2.8-32.6]. CONCLUSION: Musculoskeletal deformities develop in a significant proportion of children following thoracic surgery, but most are subclinical. A muscle-sparing technique decreases the incidence of these deformities. TYPE OF STUDY: Prospective Cohort Study. LEVEL OF EVIDENCE: Level II.

Improved Gait Parameters After Orthotic Treatment in Children with Infantile Tibia Vara.

The aim of this study was to investigate the modification of gait kinematics before and after orthotic treatment in patients with ITV. Vicon instrumented gait analysis was performed on three patients with ITV, pre and post treatment. Orthoses were applied a total of eighteen participants with ITV who were 25-38 months. 34 extremities were treated and radiographic evidence evaluated before and after orthotic treatment. Treatment duration for orthotic treatment ranged between 11 and 41 (25.9 ± 10.0) months. Only three patients were evaluated in gait analysis due to application difficulties. Three patients kinematic and kinetic instrumented gait analysis were found flatfoot, varus and internal rotation of the foot, hip flexion and external rotation. Study were reported an improvement in gait kinematics after orthotic treatment, in patients with ITV.

Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection.

BACKGROUND: The proposed association between osteofibrous dysplasia and adamantinoma has led some to advocate resection of the entire lesion, which can require major subsequent reconstruction. However, this link remains unproven and there is some support in more recent literature for a less aggressive approach. This study aims to describe our experience managing pediatric tibial osteofibrous dysplasia with such an approach and to report functional outcomes in children treated thus. METHODS: A total of 28 cases of osteofibrous dysplasia in 25 patients were managed at a referral center for pediatric bone tumors with observation in the first instance, then limited surgical intervention if required to address pain and deformity. Surgery aimed to restore stability and alignment without excising the lesion. Clinical records provided basic clinical outcome measures involving walking, recreation, orthoses and school/work participation and patients provided a Musculoskeletal Tumour Society score (MSTS) where contactable. RESULTS: Mean age at presentation was 6.0 years and mean follow-up was 8.3 years. Only 8 patients required surgery. According to basic outcome measures, 13 patients were symptom-free. About 15 patients (17 cases) provided a MSTS and the mean score was 24 of 30. No transformation to adamantinoma was observed. Those who presented at a younger age and with bilateral disease more often required surgery and remained symptomatic. CONCLUSIONS: A less aggressive approach to pediatric tibial osteofibrous dysplasia achieves good functional outcomes and patient satisfaction in most cases. Surgery is required in the minority of cases. Transformation to adamantinoma was not observed in this series. We recommend patient education, clinical observation and reactive intervention if required, rather than proactive resection and reconstruction. LEVEL OF EVIDENCE: Level IV-case series.

Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.

We present the anaesthetic management of a parturient with kyphomelic dysplasia and Pierre Robin Sequence who underwent elective caesarean delivery. Potential anaesthetic issues and management strategies are discussed.

Management of symptomatic os acromiale: a survey of the American shoulder and elbow surgeons.

BACKGROUND: The purpose of this paper was to survey members of the American Shoulder and Elbow Surgeons (ASES) to assess their opinion on management options, help highlight important clinical factors, and elucidate surgical preferences for the treatment of a symptomatic meso-os. METHODS: An online questionnaire was distributed to the active members of the ASES. The survey queried surgeon demographics and perioperative management preferences, and presented multiple clinical case scenarios of patients with a presumed symptomatic, unstable os acromiale. RESULTS: There were 116 ASES members who responded to the survey, and 26% (n = 30) who stated they do not operatively manage a symptomatic os. We identified two main clusters of respondents. Cluster 1 (n = 67) (as compared to cluster 2, n = 19) was comprised of surgeons with significantly more experience treating a symptomatic os acromiale (p < 0.05). These surgeons regarded gender, age, BMI, and hand dominance as important clinical factors when deciding when to proceed to surgery. Overall, arthroscopic management of the os was preferred, but those surgeons more experienced in treating os acromiale preferred open reduction and internal fixation (ORIF) in specific clinical cases. CONCLUSION: The survey findings reflect the current lack of consensus in the treatment of a unstable, symptomatic os acromiale. Overall, arthroscopic management was preferred by most surgeons, though ORIF was preferred in certain clinical scenarios by those more experienced with os acromiale. The overall preference for arthroscopy suggests a possible shift in the treatment paradigm for patients with symptomatic meso-acromions, but higher level studies are needed to substantiate these findings.

Blount disease.

Blount disease is an asymmetrical disorder of proximal tibial growth that produces a three-dimensional deformity. Tibia vara is the main component of the deformity. Blount disease exists as two clinical variants, infantile or early-onset, and adolescent or late-onset, defined based on whether the first manifestations develop before or after 10 years of age. The pathophysiological mechanisms are unclear. In the Americas and Caribbean, Blount disease chiefly affects black obese children. Without treatment, the prognosis is often severe, particularly in the infantile form due to the development of medial tibial epiphysiodesis at about 6 to 8 years of age. In other parts of the world, the associations with black ethnicity and obesity are less obvious and the prognosis is often less severe. A consensus exists about the optimal treatment in two situations: before 4 years of age, progressive Blount disease should be corrected, preferably by a simple osteotomy; and once medial tibial epiphysiodesis has developed, both a complementary epiphysiodesis and gradual external fixator correction of the other alignment abnormalities, rotational deformity, and limb length are required. After 4 years of age, the outcome in the individual patient is difficult to predict. Magnetic resonance imaging supplies information on the morphology and vascularisation of the growth regions, thereby helping to guide treatment decisions. In the adolescent form, morbid obesity limits the treatment options. Untreated Blount disease in adults is rarely encountered. A more common occurrence is the presence of residual abnormalities at skeletal maturity in patients treated for Blount disease in childhood. Premature osteoarthritis may develop. In this situation, osteotomy may delay the need for total knee arthroplasty.

Spontaneous resolution of focal fibrocartilaginous dysplasia of femur on long-term follow-up: case report and review of literature.

Focal fibrocartilaginous dysplasia (FFCD) is a rare developmental disorder frequently leading to angular deformities in young children. It most commonly affects the proximal tibia followed by distal femur. There are totally 22 reported cases of FFCD of femur. We report a case of FFCD of distal femur as a cause of varus deformity that was managed nonoperatively. The deformity resolved spontaneously over a period of 8 years. This is the second reported case of spontaneous resolution of angular deformity secondary to FFCD of distal femur. We strongly recommend to observe the behavior of deformity over a period of 24 months before any surgical intervention is planned.

Sclerosing bone dysplasias.

The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups.

Early-Onset Spinal Deformity in Skeletal Dysplasias: A Multicenter Study of Growth-Friendly Systems.

PURPOSE: Severe, early-onset spinal deformity is common in patients with skeletal dysplasia. These deformities often present at young ages and are associated with significant pulmonary dysfunction. The objective of this study is to verify the effectiveness of growth-friendly spinal instrumentation systems in promoting growth in patients with skeletal dysplasia and early-onset kyphoscoliosis. METHODS: A retrospective, multicenter comparative cohort study was performed. Twenty-three patients identified to have a skeletal dysplasia (SKD) were evaluated for diagnosis, age at treatment, gender, and type of growing rod construct (spine vs. rib constructs). Patients were matched by age and construct type with similarly treated patients with early-onset scoliosis (CON) without skeletal dysplasia. Radiographic parameters including maximum coronal and sagittal Cobb angle with levels, T1-S1 height, and T1-T12 height were measured. RESULTS: T1-T12 (12.8 vs. 15.2 cm, p = .01) and T1-S1 (21.2 vs. 24.5 cm, p = .05) heights were significantly shorter for the SKD group at implantation, and kyphosis tended to be more severe in children with SKD (p = .80 and .07, respectively). Kyphosis did not improve with treatment. Scoliosis improved (p < .01), and ΔT1-T12 and ΔT1-S1 significantly increased in both groups (p < .01). Complication rates were similar between the two groups; however, patients with SKD had more intraoperative monitoring changes and hardware failures (p < .005). CONCLUSION: Although patients with SKD start with shorter spine lengths, gains in spine length appear to be comparable to other forms of EOS. Neuromonitoring changes and implant failures are more common in the SKD group. SIGNIFICANCE: The effectiveness of growth-friendly techniques in promoting growth in early-onset spinal deformities in patients with skeletal dysplasia has not been previously studied. We report the first comprehensive review of this topic. Growth-friendly techniques are an appropriate treatment option in this patient population.

Pediatric Orthopaedic Consults From Chiropractic Care.

Alternative medicine in pediatrics is expanding, with chiropractic now a common choice for families seeking alternative medical care. Currently, there is sparse information in the literature exploring the role of chiropractic in orthopaedic pathology. The objective of this case series is to present pediatric patients who received treatment from chiropractors and orthopaedic physicians as well as to review the respective existing research. Data collected included chiropractic diagnosis, orthopaedic diagnosis, imaging studies, treatments, and complications. Twenty-three patients were studied. Scoliosis, Legg-Calvé-Perthes disease, developmental dysplasia of the hip, cerebral palsy, skeletal dysplasia, and slipped capital femoral epiphysis were diagnoses included. Children had multiple sessions of chiropractic for management of these conditions. The parents' perception for chiropractic was positive in every case. Delayed referral, misdiagnosis, adverse events from manipulative therapy, and ineffective treatments were observed in the present study. More research is indicated to validate chiropractic in children with orthopaedic pathology. (Journal of Surgical Orthopaedic Advances 27(1):58-63, 2018).

Optimal Treatment of Osteofibrous Dysplasia of the Tibia.

BACKGROUND: Our study of a large patient group reports on the behavior and postoperative recurrence of osteofibrous dysplasia (OFD). METHODS: We reviewed the medical records of 55 patients who were diagnosed with OFD of the tibia and showed typical features of this tumor. The patients' presentation, disease course, history of pathologic fracture, typical radiographic features, surgical treatment history, and surgical results were investigated. RESULTS: The longitudinal OFD lesion size peaks at a mean 13.3 years of age with a mean maximum proportionate size of 0.33. These lesions in 92% of the patients spontaneously presented with a stable disease course, while those in the other 8% continued increasing. There were no significant predictive factors of disease course. Among surgically treated lesions, we noted a higher rate of recurrence after curettage than after excision (P<0.001). Patients who underwent curettage and developed recurrence were significantly younger than those who did not (P=0.01). CONCLUSIONS: Our data suggest that observation can be the primary form of treatment for patients with OFD and that the disease would stop advancing with time. During observation, clinicians should carefully observe all patients with OFD because the relation between OFD and adamantinoma is unclear. If surgery is necessary due to severe morbidity, we recommend excision rather than curettage to prevent recurrence, especially for younger patients. LEVEL OF EVIDENCE: Level III.

Osteogenesis induced by a three-dimensional bioimplant composed of demineralised bone matrix, collagen, hydroxyapatite, and bone marrow-derived cells in massive bone defects: An experimental study.

Treatment of massive bone defects is one of the most difficult problems to solve in orthopedics. At present, there is no consensus on the best way to resolve these problems. The aim of our study was to evaluate the effect of a three-dimensional bioimplant over massive bone defects, and to analyse if it improves the speed and quality of integration in recipient bone compared to allograft treatment. Fifteen female lambs with massive bone defects, surgically created in their tibias, were randomly divided into three groups of five lambs each: Group I -treated with the bioimplant; Group 2 -treated with the bioimplant plus nucleated cells of autologous bone marrow; Group 3 -treated with a frozen allograft. Radiographs were taken post-treatment at weeks 1, 6, and 12. Animals were euthanized to obtain the studied bone segment for morphological analyses. TREATMENT: with bioimplants vs. bioimplant plus bone marrow nucleated cells (BMNCs) showed a notorious osteogenic effect, but with greater osteoid synthesis and cellularity in the latter. These results suggest that combined treatment with bioimplants and BMNCs have an additive effect on massive bone defects in lambs. These experimental results could be applied to repair damaged human bone.

Update on treatment of adolescent Blount disease.

PURPOSE OF REVIEW: Treatments available to correct adolescent Blount disease deformities differ in terms of features, advantages, and disadvantages. Each is indicated, therefore, for different scenarios of severity, physeal condition, and maturity. The purpose of this review is to update basic concepts, surgical treatments, and controversies concerning this disorder. RECENT FINDINGS: The cause of Blount disease is unknown although etiologic factors as morbid obesity and hypovitaminosis D are thought to be associated with it. Recently, semiinvasive techniques (guided growth) have been proposed for mild deformities but remain controversial. Osteotomies with external fixation (hexapodes) are still the most recommended corrective treatment in this condition. SUMMARY: Little is known about the origin and natural history of Blount disease. Treatment is always surgical and, given their complexity, should be preceded by a thorough analysis and planning regarding all deformities. Treatment principles are to correct the three-dimensional deformity and avoid recurrence. The choice of technique mainly depends on patient maturity and severity. Guided growth is a good choice for more immature patients with moderate deformities. Progressive correction using osteotomy or physeal distraction is indicated for patients with severe deformities and low remaining growth. The Taylor spatial frame is currently the most popular progressive correction device.

Aplasia cutis congénita con defecto óseo subyacente: evolución favorable tras manejo conservador.

La aplasia cutis congénita es una rara alteración caracterizada por la ausencia de áreas localizadas de piel en el momento del nacimiento. Suele manifestarse como una lesión solitaria localizada principalmente en el cuero cabelludo, que puede estar asociada con otras malformaciones congénitas. Las complicaciones pueden ser fatales, por lo que es necesario un tratamiento individualizado que vendrá determinado por el tamaño, localización y grado de afectación de estructuras subyacentes. Presentamos un caso de aplasia cutis congénita del cuero cabelludo con múltiples lesiones y defecto óseo subyacente de 3 × 1.5 cm de tamaño, pero sin otras anomalías asociadas. El manejo conservador permitió una adecuada y completa epitelización cutánea con cierre del defecto óseo subyacente sin necesidad de procedimientos invasivos.

Bone dysplasia.

Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization. Bone dysplasia mostly affect many organs, and therefore require multidisciplinary follow-up and care. The role of the pediatric endocrinologist is to assess the growth potential of these patients in coordination with the other caregivers, offer the best management of the growth to limit the psychosocial consequences of the extreme short stature and bone deformities.