A 1-year-old male neutered ferret (Mustela putorius furo) was evaluated for an abnormal left cubital joint. Radiographs demonstrated a proliferative osseous lesion of the left proximal antebrachium. Computed tomography confirmed a large thin-walled expansile osseous lesion of the left proximal radius and identified multifocal proliferative lesions of the axial spine, two of which caused spinal cord compression. A left forelimb amputation with total scapulectomy was performed. Histopathology revealed a well-demarcated mass with a thin rim of mature lamellar bone and a discontinuous cartilage cap covered by a perichondrial/periosteal membrane continuous with the adjacent bone. Findings were most consistent with an osteochondroma or osteochondromatosis (i.e., multiple cartilaginous exostoses, hereditary multiple exostoses). No evidence of malignant transformation was observed within this specimen. Three months post-surgery, verbal correspondence with the owner confirmed return to normal activity level and no emergence of neurological signs. Repeat examination and imaging were recommended.

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.

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.
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.
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.
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.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

暂无摘要。

Osteochondromatosis is a benign proliferative disorder characterized by cartilage-capped bony protuberances. In humans and most mammals, variants in the EXT1 or EXT2 gene are strongly correlated with the etiology of osteochondromatosis. However, in cats, osteochondromatosis has only been associated with feline leukemia virus infection. In this study, to explore other factors involved in the etiology of feline osteochondromatosis, we examined the EXT1 and EXT2 genes in a feline leukemia virus-negative cat with osteochondromatosis. Genetic analysis revealed a heterozygous single base pair duplication in exon 6 of the EXT1 gene (XM_023248762.2:c.1468dupC), leading to a premature stop codon in the EXT1 protein. Notably, this frameshift variant is recognized as one of the most common pathogenic variants in human osteochondromatosis. Our data suggest for the first time that genetic variants can have etiologic roles in osteochondromatosis in cats, as in humans and other animals.

Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths.
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.
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.
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.
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.
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.
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.
En este estudio se observó que el dolor y la gravedad de la enfermedad tuvieron un efecto negativo en la CVRS.

A 6-months-old male mixed-breed dog was admitted to the veterinary hospital with lameness in the right pelvic limb, proprioceptive ataxia, and suspected spinal cord injury in the lumbosacral segment. Upon palpation, firm nodules were noted on the bony surface of the thoracic and pelvic limbs, ribs, vertebrae, and tail. The radiographic study showed nodules of low radiopacity with well-defined limits and smooth contours, one of which was overlapping the fifth lumbar vertebra. Given the clinical presentation indicative of spinal cord injury, the animal was subjected to hemilaminectomy for nodular resection. Histopathological examination of the biopsy enabled the diagnosis of osteochondroma. The clinical follow up after surgery showed improvement in walking, despite persistent monoparesis in the right pelvic limb. The radiographic study in association with clinical and histopathological exams allowed the diagnosis and monitoring of the lesions.

OBJECTIVE: To report on the outcome of single-bone forearm reconstruction (SBFR) as a salvage procedure in pediatric forearm pathologies.
METHODS: Twenty-eight forearms in 27 patients (median age, 9.6 years; range, 3.4-29.7 years) treated with SBFR at a pediatric referral center were included in the study. Records and radiographs were retrospectively analyzed. Median follow-up was 84 months (range, 24-261 months). The most common underlying condition was multiple hereditary exostoses (MHEs) (17 of 28), followed by brachial plexus birth injury (5 of 28), Ollier disease (2 of 28), congenital radial head dislocation (2 of 28), and others (2 of 28).
RESULTS: By 4 months (range, 2-10 months) after surgery, 21 of 28 forearms had united. Median resting postoperative forearm rotation was 10° pronation (range, neutral to 25° pronation). Before surgery, pain was present in 23 of 28 forearms. At the latest follow-up, pain was present in 5 of 28 forearms. In three of the 5 forearms with residual pain, this was attributed to ulnohumeral degenerative changes that existed prior to SBFR. Following SBFR, elbow flexion-extension range was maintained. In the subgroup with MHEs, radial articular angle was maintained (median, 37°-30°) and carpal slip percentage improved significantly (median, 40%-12%). Complications occurred in 8 forearms: 3 cases of nonunion in older patients (age, 30, 20, and 14 years), 2 cases of traumatic juxtaimplant fractures following successful union, 1 case of infection, 1 case of compartment syndrome, and 1 case of persistent radiocapitellar impingement. All complications were successfully treated. When stratified by age, none of the patients in the younger group (16 forearms, age < 12 years) had nonunions or pain at latest follow-up.
CONCLUSIONS: The SBFR is an old, but generally reliable, option as a single-stage salvage procedure for a number of recalcitrant pediatric forearm pathologies. Success rate may be higher in younger patients.
METHODS: Therapeutic IV.

Synovial chondromatosis is a rare benign condition. It most commonly affects the large joints. Presentation in the temporomandibular joint is rare. Our case was an incidental radiological finding and not diagnosed immediately, highlighting the ease with which conditions such as this can be missed, particularly in asymptomatic patients. Only 45% of patients with synovial chondromatosis show radiographic changes. Findings as significant as ours are unusual. An increased professional awareness of the radiological signs of synovial chondromatosis would be beneficial to improve diagnosis and prognosis for patients.