Distribution of Solitary and Multiple Enchondromas of the Hand.

BACKGROUND/AIM: Although some patients with enchondroma have multiple lesions, no study has investigated the distribution of lesions in patients with multiple enchondromas. PATIENTS AND METHODS: This retrospective study included 118 patients with enchondroma of the hand. The incidence and characteristic feature of multiple enchondromas of the hand were investigated. RESULTS: Four patients (3.4%) had multiple enchondromas. In all the patients with multiple enchondromas, the lesions occurred in the middle phalanx, proximal phalanx, and metacarpal bone in the same digital ray. CONCLUSION: The development of the hand rapidly progresses from intrauterine day 33 to day 54. The digital rays are evident on intrauterine day 41, and separation of the distal phalanx, middle phalanx, proximal phalanx, and metacarpal bone is completed until intrauterine day 54. The successive occurrence of multiple enchondroma lesions in the same digital ray in all four cases suggests that the occurrence of lesions preceded the separation of the hand bones and the lesions were divided during the development of these bones.

A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene.

Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 gene. We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene.

[Chondromatose of the temporomandibular joint: Multicentric study and clarification from 14 cases]. / Chondromatose de l'articulation temporomandibulaire : étude multicentrique et mise au point à partir de 14 cas.

INTRODUCTION: The aim of our study was to analyse a series of patients suffering from temporomandibular joint (TMJ) chondromatosis treated in 2 departments of stomatology and maxillofacial surgery (University hospitals of the Conception in Marseille and of Caen) and to make a general review of this disease. MATERIAL AND METHODS: We conducted a retrospective study including all the patients treated for a TMJ chondromatosis in one of these 2 departments. Following parameters were analyzed: sex, ages at discovery and at surgery, symptoms, side, imaging, histology, recurrence and any other events considered as relevant. RESULTS: Fourteen patients could be included: 85.7 % were women. Average age at diagnosis was 40.14 (σ = 13.82; IC95: 32.90-47.38) (41 for women [σ = 14.74; IC95: 33.28-48.72] and 35 years for men [σ = 5.66, IC95: 27.16-42.84]). Average age at surgery was 40.86 (σ = 14.18; IC95: 33.43-48.28). There was no predominance of side; 57.14 % of the patients had a joint syndrome, 57.14 % a tumor syndrome, 28.57 % had pain and 14.29 % had headaches. Panoramic X-ray was informative in 3 cases only. CT scan showed intra-articular calcifications in half of the cases only but arthrosic modifications in all the cases. Magnetic resonance imaging (MRI) constantly showed intra-articular cartilage fragments. When histology was performed, it found the synovial to be normal in one case and multiple nodules with clear cartilaginous differentiation in another case. One patient suffered from a second contralateral localization 10 years later. DISCUSSION: Chondromatosis has a slow evolution and is asymptomatic for a long time. MRI allows to evoke the diagnosis and to locate precisely the osteochondromas. Diagnosis is confirmed by histology that highlights a synovial metaplasia and more or less calcified chondromas. The main differential diagnosis to be eliminated because of prognostic reasons is the synovial chondrosarcoma. Treatment consists in surgical removing of the chondromas. Evolution is usually favorable.

Chondromatosis of the Temporomandibular Joint as a Consequence of Persistent Long-Lasting Joint Dysfunction: Late Diagnosis of a Rare Occurrence.

The authors present a rare patient of right synovial chondromatosis (SC) of the temporomandibular joint in which diagnosis was late and delay led to SC extension to the cranial base. Synovial chondromatosis is a rare benign disorder characterized by multiple cartilaginous free-floating nodules originated from the synovial membrane of large articular joints of the body. Differential diagnosis is with neoplasm and radical surgical removal is essential. The patient came to the authors' observation complaining about long-lasting temporomandibular joint dysfunction. The patient already underwent either functional or medical therapy in times without any improvement. Clinical examination showed limited mouth opening and swelling of the right preauricolar region with no signs of facial nerve palsy and without paresthesia or hearing loss. No history of recent trauma was recorded. Magnetic resonance imaging showed a mucous-like hyperintense mass with small hypointense spots inside. A preoperative computed tomography scan was performed and showed a mass extending from the superior aspect of the temporomandibular joint to the glenoid fossa, which was partially eroded. The patient underwent either open joint surgery or arthroscopy of the superior joint space and a large number of chondrocytes were removed. No complications were recorded postoperatively and the patient completely recovered after 6 months. Histology confirmed the diagnosis of synovial condromatosys of the right temporomandibular joint.

Exostoses, enchondromatosis and metachondromatosis; diagnosis and management.

We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. The appearance of both exostoses and enchondromas suggested a possible diagnosis of metachondromatosis. Genetic testing revealed a splice site mutation at the end of exon 11 on the PTPN11 gene, confirming the diagnosis of metachondromatosis. While both single or multiple exostoses and enchondromas occur relatively commonly on their own, the appearance of multiple exostoses and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis. Making this diagnosis is important as the lesions in metachondromatosis may spontaneously resolve and therefore surgical intervention is often unnecessary. We discuss the diagnostic findings, genetic causes, treatment and prognosis of this rare condition of which less than thirty cases have previously been reported.

Sindrome de Maffucci / Maffucci’s syndrome

El síndrome de Maffucci es un raro trastorno congénito de etiología desconocida. Se caracterizapor encondromas, deformidades óseas, hemangiomas y con menor frecuencia linfangiomas. Presentamos un paciente con síndrome de Maffucci y hacemos una revisión de la patología...

A case of bilateral multiple pulmonary chondroma: necessity of follow-up for Carney's triad.

We report a case of pulmonary bilateral multiple chondromas that were possibly an initial clinical presentation of Carney's triad. A 56-year-old Japanese non-smoking asymptomatic woman was admitted to the hospital for further examination of small, multiple, bilateral nodules in the lungs. Although chest radiological findings suggested that the nodules were possibly metastatic pulmonary tumors, the malignant origin was not detected. During diagnostic video-assisted thoracic surgery, wedge resections including the nodules were performed. Since pathological examination showed nodules were surrounded by fibrous and eosinophilic stroma, we diagnose the nodules as chondromas. These chondromas were possibly components of Carney's triad, because each nodule had a thin fibrous pseudocapsule and did not have an entrapped epithelium and fat. Some patients die of Carney's triad because of malignant alteration of lesions. Therefore, the patients with Carney's triad should be taken a medical check periodically. This patient was scheduled to undergo the check-up for several years.

Soft tissue pathology of the ankle.

Derangements of the soft tissues within the ankle joint are associated with a wide variety of pathophysiology, and typically can be classified as secondary to traumatic injury, rheumatic disease, or congenital lesions. Patients often present with persistent pain, swelling, and limitations on function, usually focused on the anterior aspect of the joint. Evaluation should be guided by a detailed history and physical examination, followed by clinical, laboratory, and imaging studies as indicated. The pathophysiology, diagnosis, and management of these conditions will be the focus of this article.

Selected cases of arthroscopic treatment of popliteal cyst with associated intra-articular knee disorders primary report.

INTRODUCTION: The goal of the reported study was an evaluation of results, obtained in the treatment of knee joints with intraarticular pathologies, concomitant with cysts in the popliteal fossa. We hypothesized that removal of popliteal cyst and associated pathology will provide improvement in function, pain of operated knee and patient satisfaction. MATERIAL AND METHODS: There were 10 patients involved in the study (6 male and 4 female) at the age ranging from 6 to 53 years, with a symptomatic popliteal cyst. The follow-up period varied from 6 to 20 months. RESULTS: In all patients intraarticular pathologies were concomitant with popliteal cyst and included: ACL lesion, medial meniscal tear, synovitis, chondral lesion, chondromatosis and synovial plica syndrome. In 50% of the patients, a valvular mechanism was visualised and eliminated during operation. On the average, the Lysholm score was 45.9 before operation and 86.1 at last follow-up. Based on the Visual Analogue Scale patients evaluated their knee joints, on the average 8.2 at before and 3.3 after the operation. According our own scales all but one patient had functional improvement of operated knee, felt better about the knee than before operation and would recommend the treatment to friends and family. Also according to Rauschning and Lindgren classification all but one patient had improvement. No long-term complications were found in any of the operated patients. CONCLUSIONS: Elimination of intraarticular pathologies coexisting with popliteal cyst provides significant improvement of knee function, pain and patient satisfaction.

Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangeal syndrome, type II. However, despite physical resemblance to the trichorhinophalangeal syndrome variants, cytological analysis showed a structurally normal chromosome 8 and no mental deficiency was apparent. In addition, morphological congruities between multiple exostoses and metachondromatosis was indicated from radiographic findings.

[Osteochondrosis dissecans of the hip in adults--differential diagnosis of free joint bodies--case report]. / Osteochondrosis dissecans der Hüfte beim Erwachsenen -- Differenzialdiagnostik freier Gelenkkörper -- Fallbeschreibung.

The causes of hip pain in adults can vary greatly. We present the case of a 44-year-old woman with recurrent hip pain over a period of years. Medical history and clinical examination did not provide any decisive information. The X-rays revealed a loose body in the cavity of the hip joint. The MRI scan made the following differential diagnosis plausible: osteochondrosis dissecans coxae, osteochondroma and chondromatosis. The final diagnosis of osteochondrosis dissecans coxae was confirmed by surgical dislocation of the hip as modified by Ganz and histological examination of the loose body. This case supports the importance of including rare lesions in the differential diagnostic work-up of joint pain. The advantages of the offset operation as modified by Ganz versus arthroscopy of the hip are outlined.

Condromalacia de rótula. diagnóstico y tratamiento artroscópico / Chondroma of patella artroscopic diagnosis and treatment

Se realizó una revisión bibliográfica acerca de la condromalacia de rótula. El objetivo de este trabajo es actualizar este tema en varios parámetros como: causa, clasificación, diagnóstico clínico y radiológico, diagnóstico y tratamiento artroscópico, así como las complicaciones que se pueden presentar en este método. La importancia de este estudio es que permite un enfoque desde el punto de vista artroscópico a esta afección que constituye una de las causas más importantes del síndrome doloroso anterior de la rodilla(AU)

Synovial chondromatosis in the temporomandibular joint complicated by displacement and calcification of the articular disk: report of two cases.

Two cases of synovial chondromatosis of the temporomandibular joint (TMJ) are presented, including correlation of CT and MR imaging characteristics with surgical and pathologic findings. The usefulness of CT and MR imaging in the diagnosis of TMJ disorders is discussed.

Synovial chondromatosis of the temporomandibular joint.

We report two cases of temporomandibular joint (TMJ) synovial chondromatosis, one of which was in the early stage and treated arthroscopically. The second was more advanced and recurred after removal of the free bodies, and so required condylectomy and synovectomy.

Intraspinal synovial cyst in a dog.

An eight-year-old, male Siberian husky cross was referred with a history of an acute onset of pelvic-limb ataxia and paraparesis. Radiography and subsequent myelography of the spine revealed an extradural compression of the spinal cord at the level of the 13th thoracic (T13) to first lumbar (L1) vertebrae. Hemilaminectomy resulted in the successful removal of an extradural cystic lesion. The morphological diagnosis based on histopathology was a synovial cyst with chondromatosis. There were no postoperative complications, and the dog's condition improved markedly. At two years postoperatively, the animal remains normal on both physical and neurological examination. To the authors' knowledge, this article is the first report of an intraspinal synovial cyst in a dog.

Fine-needle aspiration diagnosis of synovial chondromatosis of the tibiofibular joint.

We report a case of synovial chondromatosis of the tibiofibular joint in a 25-year-old woman that was diagnosed by fine-needle aspiration (FNA). The patient presented with pain in the left knee and a mass in the popliteal fossa. Synovial chondromatosis usually presents with joint symptoms and is often associated with intra-articular loose bodies, whereas presentation as a soft tissue mass is unusual and may raise the clinical suspicion of malignant neoplasm. The diagnosis is commonly confirmed by histopathologic examination of biopsy or excision of the specimen. To the best of our knowledge, this is the first case of synovial chondromatosis of a large joint successfully diagnosed by FNA. Two cases of synovial chondromatosis of the temporomandibular joint have been reported in which the diagnosis was suspected on the basis of FNA. In both these cases, the final diagnosis was established by histopathology of the excised specimens.