Management of Primary Synovial Osteochondromatosis in the Ankle Joint With a Combined Posterior-Anterior Arthroscopic Procedure: A Case Report.

Primary synovial osteochondromatosis (PSO), a seldom-seen synovial proliferative disease involving chondral metaplasia, presents a unique challenge when affecting the ankle joint. Controversy exists regarding whether a combined posterior-anterior approach with total synovectomy is necessary to avert recurrence or malignancy. An 18-year-old Caucasian male presented to the outpatient clinic with clinical and imaging findings indicative of a stage III PSO. The surgical intervention involved a combined posterior-anterior arthroscopic approach with the removal of multiple loose bodies and complete synovectomy, resulting in complete relief of symptoms without recurrence at the 12-month follow-up. Pathological examination confirmed the diagnosis. The management of PSO in the ankle joint using a combined posterior-anterior arthroscopic approach with complete synovectomy demonstrated effectiveness in this case. Regular follow-ups are essential for monitoring long-term outcomes and detecting potential recurrence or malignant transformation.

Neurologic recovery following laminectomy and tumor resection of a pediatric cervical synovial osteochondromatosis causing paralysis.

PURPOSE: To report the surgical outcome of synovial osteochondromatosis, a rare tumor of the cervical spine, in a 6-year-old boy. METHODS: A 6-year-old boy presented with muscle weakness in the right deltoid (2) and biceps (4) during a manual muscle test. Magnetic resonance imaging showed a 3 × 2 × 1.5 cm mass within the spinal canal at the C4-6 level, compressing the cervical spinal cord from the right side. Computed tomography revealed hyperintense areas within the tumor and ballooning of the right C4-5 and C5-6 facet joints. RESULTS: After a biopsy confirmed the absence of malignancy, a gross total resection was performed. The pathological diagnosis of synovial osteochondromatosis was established. Postoperatively, muscle weakness improved fully in the manual muscle test, and there were no neurological findings after 3 months. However, the patient is under careful follow-up owing to the detection of a regrowth site within the right C4-5 and C5-6 intervertebral foramen 2 years postoperatively. CONCLUSIONS: Synovial osteochondromatosis of the cervical spine in children is rare, and this is the first report of its regrowth after surgery. Synovial osteochondromatosis should be included in the differential diagnosis of pediatric cervical spine tumors.

Ankle synovial chondromatosis: Clinical, radiological, and surgical findings: A case report.

Synovial chondromatosis is a rare benign condition defined by the presence of cartilaginous lesions in the synovium of joints, tendon sheaths, and bursae. It most typically affects large joints, such as the knee, hip, and shoulder, but it is also reported in smaller joints. Nonetheless, ankle involvement is relatively uncommon. A complete history and clinical, physical, and radiographic examinations are usually used to determine the diagnosis. Hence, we reported a case of a young patient with left ankle primary synovial chondromatosis who presented with a left ankle mass and chronic pain.

Pediatric Synovial Osteochondromatosis of the Knee with Leg Length Discrepancy: A Case Report.

Introduction: Synovial chondromatosis (SC) is very rare among children. We are aware of no reports of patients with SC accompanied by leg length discrepancy (LLD). Case Report: We describe a case of synovial osteochondromatosis of a 7-year-old boy complicated by LLD. We performed epiphysiodesis of the distal femur and arthroscopic resection of loose bodies and total synovectomy. Three years after surgery, LLD had been corrected and there was no sign of recurrence. Conclusion: Physicians should be aware of synovial osteochondromatosis complicated by LLD in childhood and take radiographs of the whole length of lower legs when this condition is suspected.

An unusual cause of inguinal swelling: Primary synovial osteochondromatosis.

Inguinal swelling should raise suspicion for hip joint osteochondromatosis. Early recognition, accurate diagnosis, and prompt surgical intervention are essential for optimizing patient outcomes.

Synovial Chondromatosis in a Young Athlete: A Report of a Rare Case.

Synovial chondromatosis is a rare and benign disorder that involves the synovial lining of joints, synovial sheaths and bursae. The synovial layer of the joint is affected by a metaplastic process which in turn converts it into cartilagenous tissue. Eventually, it gets dislodged and transformed into a loose body in the large joints. We report the case of a 24-year-old young athlete who presented with complaints of painful movements and restriction of joint movements associated with a growing deformity in the right knee joint. This case report aims to describe a rare synovial pathology that necessitated arthroscopic synovectomy and diagnostic arthroscopy to treat, particularly in younger individuals. The atypical feature, in this case, was metaplastic development from the peripheral joint capsule attached to the surrounding cartilage, which, to the extent that the authors are aware, has only been documented in one instance in the record. Magnetic resonance imaging (MRI) was performed which demonstrated evidence of the joint effusion, synovial hypertrophy and a loose calcific body just anterior of the distal femoral condyle causing pressure over the patellar tendon anteriorly as well as a hyper-dense cyst in the popliteal region. Treatment often requires partial or complete synovectomy with either an arthroscopic or open approach.

A Missed Case of Synovial Osteochondromatosis.

Synovial osteochondromatosis or synovial chondromatosis is a benign joint pathology characterized by the development of multiple cartilaginous nodules or loose bodies in the synovial membrane that typically arise in the larger joints of the body. It usually presents as joint pain and, as seen in the present case, can occasionally be missed. Diagnosis involves a combination of clinical evaluation, imaging studies, and histopathological evaluation (which is confirmatory). Treatment depends on the severity of the disease, symptoms, and the patient's social situation, and may include monitoring for asymptomatic cases, non-surgical management (pain medications and physical therapy), or surgical intervention. Surgical intervention may include arthroscopic removal of loose bodies, synovectomy, or reconstruction/replacement in severe situations. Prognosis has a direct relationship to how early the disease is diagnosed. Early intervention with appropriate management can help alleviate symptoms; however, if left unmanaged, it can lead to joint damage and osteoarthritis or very rarely, malignant transformation into chondrosarcoma. This report describes the case of a 62-year-old female with complaints of bilateral knee pain who was originally diagnosed with osteoarthritis based on clinical exam and X-rays. Two magnetic resonance imaging (MRI) scans were done three years apart, with synovial osteochondromatosis being on the differential after the second scan. A left knee major synovectomy was conducted after the second MRI reading, where rubbery masses of tissue along with loose fragments were removed. Fluid from the tissue masses was sent to culture and pathology for interpretation. Two weeks post the surgery, the patient's pain improved tremendously, with adequate ambulation independently. Histopathology came back positive for synovial osteochondromatosis. This case report highlights the importance of keeping this joint pathology on the differential when treating patients with joint pain and interpreting imaging.

Feline osteochondromatosis in a 12-year-old feline leukaemia virus-negative cat.

Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the exostosin glycosyltransferase 1 (EXT1) gene. Osteochondromatosis was diagnosed in an indoor-only, 12-year-old, neutered female, Russian Blue cat. Radiographs revealed bilateral calcified proliferations in the elbow, costochondral and sternochondral joints, which distorted the normal skeletal structure. Grossly, the proliferated joints presented with consistent, rounded masses, causing complete ankylosis. The main histopathological finding was an osteocartilaginous proliferation composed of multiple irregular islands of well-differentiated hyaline cartilage surrounded and delimited by osteoid tissue. Immunohistochemistry of the osteochondromas, bone marrow and mediastinal lymph nodes, using a primary anti-FeLV gp70 antibody, and FeLV proviral DNA real-time polymerase chain reaction on bone marrow were negative. Sequencing of exon 6 of the EXT1 gene was performed and nucleotide BLAST analysis demonstrated the absence of a frameshift variant. This study reports the only case of spontaneous feline osteochondromatosis in an animal more than 10 years old.

Synovial Chondromatosis in a Rural Healthcare Setting.

Synovial chondromatosis is a rare, benign, and metaplastic cause of joint swelling resulting in the formation of cartilaginous nodules in the joint space. It is usually an oligoarticular disorder of large joints that typically manifests in the third to fifth decade of life. Synovial chondromatosis can be primary or secondary depending on whether an underlying etiology can be identified. Diagnosis can be made using imaging studies of the affected joint and confirmed on histopathology. Management of synovial chondromatosis can be done arthroscopically or surgically. We present a case of a 23-year-old male who presented with a long history of right knee pain, swelling, and limitation in range of motion. An X-ray of the knee showed multiple intra-articular and soft tissue calcifications. Due to the limitations of our setting, we proceeded with an open biopsy. During arthrotomy, clear straw-colored fluid with multiple nodules of varied sizes was found. A google image search helped put us in the direction of the diagnosis of synovial chondromatosis. We did a complete evacuation of loose bodies and a biopsy of synovium, which confirmed the diagnosis. The rarity of synovial chondromatosis results in a delay in the diagnosis. With the thoughtful application of resources and surgical principles, synovial chondromatosis can be safely and effectively managed in resource-limited settings.

Sacroiliac joint involvement in osteochondromatosis: identifying its prevalence and characteristics from cross-sectional imaging

PURPOSE: Apart from a few case reports, sacroiliac joint (SIJ) involvement in osteochondromatosis has not been studied. We aimed to determine the prevalence and characteristics of such involvement using cross-sectional imaging. METHODS: In this retrospective study, three observers (one junior radiologist and two musculoskeletal radiologists) independently reviewed computed tomography (CT) or magnetic resonance imaging (MRI) of patients in our database who had osteochondromatosis (≥2 osteochondromas across the skeleton) for SIJ involvement. The final decision was reached by the consensus of the two musculoskeletal radiologists in a later joint session. RESULTS: Of the 36 patients with osteochondromatosis in our database, 22 (61%) had cross-sectional imaging covering SIJs (14 females, 8 males; age range 7-66 years; mean age 23 years; 13 MRI, 9 CT). Of these, 16 (73%) had intra-articular osteochondromas. For identifying SIJ osteochondromas on cross-sectional imaging, interobserver agreement was substantial [κ = 0.67; 95% confidence interval (CI): 0.34, 1.00] between the musculoskeletal radiologists and moderate (κ = 0.59; 95% CI: 0.23, 0.94) between the junior radiologist and the final consensus decision of the two musculoskeletal radiologists. In the cohort with cross-sectional imaging, the anatomical variations of the accessory SIJ (n = 6, 27%) and iliosacral complex (n = 2, 9%) were identified in six different patients with (n = 2) and without (n = 4) sacroiliac osteochondromas. CONCLUSION: Cross-sectional imaging shows frequent (73%) SIJ involvement in osteochondromatosis, which, although a rare disorder, nevertheless needs to be considered in the differential diagnosis of such SIJ anatomical variants as the accessory SIJ and iliosacral complex. Differentiating these variants from osteochondromas is challenging in patients with osteochondromatosis.

Synovial Osteochondromatosis: Clinical Characteristics Unique to the Shoulder.

Background: Synovial osteochondromatosis (SOC) of the shoulder is a rare condition with unclear characteristics. This study evaluated the clinical features and postoperative functional outcomes of SOC of the shoulder that are distinct from SOC of other joints. Methods: The characteristics of 28 shoulders with SOC that underwent arthroscopy were retrospectively assessed. Ten shoulders (35.7%) had rotator cuff tears (RCTs) and underwent concomitant arthroscopic rotator cuff repair. The mean follow-up period was 83.6 months (range, 24-154 months). Demographic characteristics and loose bodies localized under arthroscopy were compared between cases with and without concomitant RCTs. Radiography, ultrasonography, or magnetic resonance imaging were performed preoperatively and postoperatively. Visual analog scale (VAS) scores for pain and satisfaction were evaluated for all cases, and functional scores were assessed in shoulders with concomitant RCTs. Results: The average age was 36.2 ± 15.6 years among patients without RCTs and 58.3 ± 7.2 years among patients with RCTs. Seven shoulders (7%) had osteoarthritis. Arthroscopy revealed loose bodies in multiple spaces, including the glenohumeral joint, subacromial (SA) space, and biceps tendon sheath. Overall, loose bodies were found in multiple spaces in 12 shoulders (42.9%). Loose bodies were found in the SA space only in 4 shoulders (22.2%) without RCTs and in 7 shoulders (70.0%) with RCTs. VAS for pain decreased significantly from 3.9 ± 2.3 to 1.1 ± 1.3 (p < 0.001). The functional scores increased significantly after arthroscopic management for patients with concurrent RCTs (all p < 0.05). Recurrence of SOC occurred in 3 of the 22 shoulders (13.6%) who underwent postoperative imaging, but no patient had a recurrent RCT. Conclusions: Pain relief and patient satisfaction were achieved via arthroscopic management. Unlike in other joints, loose bodies can occur simultaneously in several spaces in the shoulder, including the glenohumeral joint, SA space, and biceps tendon sheath. Early diagnosis of SOC of the SA space can help prevent osteoarthritis and RCT progression.

Primary synovial osteochondromatosis of the ankle: A case report and review of the literature.

Primary synovial osteochondromatosis of the ankle is a rare and benign disease of the young adult. It is characterized by the formation of multiple nodules of hyaline cartilage under the synovium. It is usually asymptomatic but can sometimes be revealed by pain or joint mobility disorders. X-rays and CT scans can easily diagnose calcified osteochondromas, but ultrasound and MRI can provide a quicker diagnosis by visualizing non-calcified foreign bodies. Surgery under arthroscopy remains the best therapeutic choice, however, this pathology still causes recurrence in less than 1/3 of cases.

Advancement on the pathogenesis of hereditary multiple exostoses / 中华骨科杂志

Hereditary multiple exostoses (HME) are benign bone tumors characterized by autosomal dominant inheritance, which can cause skeletal malformation in adolescents, seriously affecting the body's aesthetic and motor functions. Currently, there are no guidelines for diagnosing and treating HME, and the main treatment is surgical treatment to remove the tumor and correct the deformity. However, osteochondroma is multiple and difficult to be completely resected. Therefore, more and more scholars are exploring the method of conservative treatment. However, the current understanding of the pathogenesis of HME is limited, and there are no safe and effective drugs in the clinic. Most hypotheses regarding the pathogenesis of HME are based on genetic mutations. Patients with HME may have EXT tumor suppressor gene mutations and function loss caused by secondary mutations such as loss of gene heterozygosity, which ultimately induce abnormal proliferation and differentiation of cartilage in growth plates. Abnormal EXT gene expression causes a decrease in the level of heparan sulphate (HS), leading to abnormalities in multiple molecular pathways that regulate the development and differentiation of growth plate chondrocytes, which together participate in the entire process of HME development and progression. This paper reviews the relevant studies on the pathogenesis of HME in recent years, in order to better understand the pathological process of HME, provide a theoretical basis for the diagnosis and treatment of HME, and also provide ideas for the development of drugs targeting HME.

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.

Surgical Dislocation of the Hip through Lateral Approach for the Treatment of Synovial Chondromatosis.

Introduction: Synovial chondromatosis is a condition where the cells lining a joint form benign cartilaginous tumors. This benign cartilage metaplasia results in the formation of multiple intra-articular loose bodies within a joint. Case Report: This case is a 59-year-old female that presented with constant, severe left hip pain that was localized to the groin and began 2 years ago. There were severe limitation of hip flexion, extension, pain on internal rotation, and a half inch left leg shortening. Radiographs demonstrated multiple round opacities surrounding the left femoral neck. MRI showed numerous, small rounded intra-articular loose bodies, measuring about 5-6 mm each within the left hip joint. Surgical Technique: A lateral approach toward the hip was used to perform an osteotomy at the portion of the greater trochanter. The hip capsule was identified and an S-shaped incision was then made through the capsule. Repetitive hip dislocations allowed for improved visualization making further removal of the difficult fragments much easier. The capsule was closed and the osteotomy was reattached. Range of motion was found to be significantly improved compared to preoperatively. No further fixation was necessary and the patient's subcutaneous tissue was closed in normal fashion. Conclusion: The technique used in our case involves a lateral approach with a trochanteric flip osteotomy to preserve the medial femoral circumflex artery and external rotators. This is similar to the approach described by Ganz in 2001 who used a posterior approach. Following the approach, the hip is then dislocated and exposed anteriorly with full visualization of the joint with a gap of about 11 cm between the femoral head and acetabulum. Surgical dislocation allows for the removal of difficult chondromas and osteophytes around the femoral head-and-neck junction. Multiple studies support the idea of surgical dislocation as an exceptional treatment method for SC.

Incidental Finding of Synovial Osteochondromatosis: A Case Report.

Synovial osteochondromatosis (SOC) is a rare, benign condition of unknown etiology characterized by the formation of cartilaginous loose bodies. This often leads to early osteoarthritis with decreased range of motion and pain. Clinical presentation most often is reported as monoarticular pain affecting the knee or less commonly the hip shoulder or elbow. Diagnosis can be confirmed on x-ray imaging where the characteristic synovial bodies will be identified. Management with early debridement of the synovium will often be curative but more complex cases may require further surgical management. We present a 33-year-old male presented with localized left knee pain. Given the history of new-onset pain, left knee x-rays were obtained that revealed a displaced patella with multiple ossific densities around the left knee which were suspicious for a new diagnosis of SOC. Due to its nonspecific symptoms and imaging, the diagnosis of SOC is often delayed or missed. Therefore, prompt diagnosis and treatment are important in order to avoid irreversible cartilage destruction in the joint, prevent the development of chronic pain, and reduce the risk of malignant transformation.

Enlarged Reactional Periostitis of the Peroneal Tubercle Mimicking Osteochondromatosis of the Calcaneus: A Case Report.

Foot and ankle tumors are relatively rare. Nevertheless, the calcaneus is a prevalent location accommodating various lesions. Reactional periostitis of the lateral wall is rarely encountered but can potentially mimic a wide variety of tumors. We present a case of excessive proliferation due to chronic compression of the peroneal tendons against the calcaneus in a female patient with a history of diminished foot control, treated successfully by tumor excision and peroneal restoration via the tubularization technique. This study aimed to underline the mimicking potential of reactional periostitis and its effect on the peroneal tendons and hindfoot motion.

Exostosis múltiple: variabilidad clínica y factores relacionados a la calidad de vida en niños y en adultos / Osteochondromatosis: clinical variability and factors related to quality of life in children and adults

Introducción. La exostosis múltiple hereditaria es una enfermedad poco frecuente autosómica dominante caracterizada por presencia de múltiples proyecciones óseas. Objetivo. Analizar factores asociados a la calidad de vida relacionada con la salud (CVRS) en niños >2 años y en adultos en seguimiento en un hospital de pediatría de alta complejidad de Argentina. Población y métodos. Estudio transversal de una cohorte en seguimiento. La CVRS se midió con Pediatric Quality of Life Inventory (PedsQL) y Short Form Health Survey (SF-36). Se registró sexo, edad, características sociodemográficas, estatura, radiología, alteración de eje y función de miembros, presencia de dolor y malignización. Se clasificó la gravedad según Pedrini y col. Se realizaron pruebas paramétricas, no paramétricas y análisis de regresión. Resultados. Se incluyeron 66 casos (47 niños y 19 adultos). Relación sexo masculino/femenino: 1,7/1. Mediana de edad: 13,4 años (r: 2,2155,3). Presentaron dolor 30 de 47 niños y 17 de 19 adultos. Si se considera la edad ósea adulta (o cierre epifisario) como punto de corte para definir el estado de adulto, 11 de 37 niños y 18 de 27 adultos presentaron forma grave de enfermedad, y se observó baja estatura en 2 de 38 niños y en 9 de 27 adultos. El valor promedio del componente físico de CVRS en niños fue 65,9 (DE: 22,5) y, en adultos, 27,2 (RIC: 18,5-34,7). La presencia de dolor y la gravedad clínica se asoció significativamente a menor CVRS tanto en niños como en adultos. Conclusiones. En este estudio se observó que el dolor y la gravedad de la enfermedad tuvieron un efecto negativo en la CVRS.

Introduction. Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths. Objective. To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina. Population and methods. Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory (PedsQL) and the Short Form Health Survey (SF36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done. Results. A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.534.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults. Conclusions. This study found that pain and disease severity had a negative effect on HRQoL.

Osteochondromatosis: clinical variability and factors related to quality of life in children and adults. / Exostosis múltiple: variabilidad clínica y factores relacionados a la calidad de vida en niños y en adultos.

INTRODUCTION: Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths. OBJECTIVE: To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina. POPULATION AND METHODS: Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory® (PedsQL) and the Short Form Health Survey (SF- 36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done. RESULTS: A total of 66 cases (47 children and 19 adults) were included. Male/female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.5- 34.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults. CONCLUSIONS: This study found that pain and disease severity had a negative effect on HRQoL.

Introducción. La exostosis múltiple hereditaria es una enfermedad poco frecuente autosómica dominante caracterizada por presencia de múltiples proyecciones óseas. OBJETIVO: Analizar factores asociados a la calidad de vida relacionada con la salud (CVRS) en niños >2 años y en adultos en seguimiento en un hospital de pediatría de alta complejidad de Argentina. Población y métodos. Estudio transversal de una cohorte en seguimiento. La CVRS se midió con Pediatric Quality of Life Inventory® (PedsQL) y Short Form Health Survey (SF-36). Se registró sexo, edad, características sociodemográficas, estatura, radiología, alteración de eje y función de miembros, presencia de dolor y malignización. Se clasificó la gravedad según Pedrini y col. Se realizaron pruebas paramétricas, no paramétricas y análisis de regresión. RESULTADOS: Se incluyeron 66 casos (47 niños y 19 adultos). Relación sexo masculino/femenino: 1,7/1. Mediana de edad: 13,4 años (r: 2,21- 55,3). Presentaron dolor 30 de 47 niños y 17 de 19 adultos. Si se considera la edad ósea adulta (o cierre epifisario) como punto de corte para definir el estado de adulto, 11 de 37 niños y 18 de 27 adultos presentaron forma grave de enfermedad, y se observó baja estatura en 2 de 38 niños y en 9 de 27 adultos. El valor promedio del componente físico de CVRS en niños fue 65,9 (DE: 22,5) y, en adultos, 27,2 (RIC: 18,5-34,7). La presencia de dolor y la gravedad clínica se asoció significativamente a menor CVRS tanto en niños como en adultos. CONCLUSIONES: En este estudio se observó que el dolor y la gravedad de la enfermedad tuvieron un efecto negativo en la CVRS.