[A clinical observation of an extensive chondroma of oro- and laryngopharynx]. / Klinicheskoe nabliudenie obshirnoi khondromy roto- i gortanoglotki.

This article was designed to report a rare case of oropharyngeal chondroma in a 31 year-old male patient. Computed tomography revealed an encapsulated cystic-solid tissue mass having the clear-cut contours with multiple diffuse foci of calcification in the tissue thickness. The neoplasm was morphologically characterized as a chondroma. The tumour was removed with the use of the modified Lauers-Balon procedure with the dissection of the lower jaw.

Radiologic follow-up of untreated enchondroma and atypical cartilaginous tumors in the long bones.

BACKGROUND AND OBJECTIVES: Both enchondroma and atypical cartilaginous tumors (ACT) are not considered malignant, so inactive and asymptomatic tumors might not need surgery. To the best of our knowledge, this is the first study that has been done to evaluate the natural course of conservative-treated enchondroma and ACT in the long bones. METHODS: For this retrospective study, we analyzed the results of patients in whom we refrained from surgery and only regularly performed radiological follow-up of the tumor. Minimal follow-up after initial diagnosis was 24 months. RESULTS: Forty-nine patients were included in this study. Eight out of forty-nine cases received surgical treatment during follow-up of the tumor. The reasons for this surgery were radiologic growth of the tumor in two cases, pain in one case, patient request in three cases, another indication for surgery in the same limb in two cases. CONCLUSION: In this small series of conservatively treated enchondroma and ACT, only 6% of the patients had a medical indication for surgery. This study shows that indication for surgery should be discussed more thoroughly. Based on our results, we would recommend annual radiologic follow-up for asymptomatic enchondroma or ACT in the long bones, irrespective of tumor size. J. Surg. Oncol. 2016;114:987-991. © 2016 Wiley Periodicals, Inc.

Multifocal periosteal chondromas in the ring finger of an adolescent boy: case report.

We describe an unusual case of a 12-year-old boy who presented with a loss of motion in the ring finger caused by 2 separate periosteal chondromas involving the proximal and middle phalanges. Range of motion improved and recurrence did not occur at the 5-year follow-up after marginal excision of both lesions.

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

PTHR1-signaling pathway is critical for the regulation of endochondral ossification. Thus, abnormalities in genes belonging to this pathway could potentially participate in the pathogenesis of Ollier disease/Maffucci syndrome, two developmental disorders defined by the presence of multiple enchondromas. In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in enchondromas from two of six unrelated patients with enchondromatosis. However, neither the p.R150C mutation (26 tumors) nor any other mutation in the PTHR1 gene (11 patients) could be identified in another study. To further define the role of PTHR1-signaling pathway in Ollier disease and Maffucci syndrome, we analyzed the coding sequences of four genes (PTHR1, IHH, PTHrP and GNAS1) in leucocyte and/or tumor DNA from 61 and 23 patients affected with Ollier disease or Maffucci syndrome, respectively. We identified three previously undescribed missense mutations in PTHR1 in patients with Ollier disease at the heterozygous state. Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. Assessment of receptor function demonstrated that these three mutations impair PTHR1 function by reducing either the affinity of the receptor for PTH or the receptor expression at the cell surface. These mutations were not found in DNA from 222 controls. Including our data, PTHR1 functionally deleterious mutations have now been identified in five out 31 enchondromas from Ollier patients. These findings provide further support for the idea that heterozygous mutations in PTHR1 that impair receptor function participate in the pathogenesis of Ollier disease in some patients.

Curettage and cryosurgery for low-grade cartilage tumors is associated with low recurrence and high function.

BACKGROUND: Chondrosarcomas of bone traditionally have been treated by wide or radical excision, procedures that may result in considerable lifelong disability. Grade 1 chondrosarcomas have little or no metastatic potential and are often difficult to distinguish from painful benign enchondromas. Curettage with adjuvant cryosurgery has been proposed as an alternative therapy for Grade 1 chondrosarcomas given the generally better function after the procedure. However, because it is an intralesional procedure, curettage and cryosurgery may be associated with higher rates of recurrence. QUESTIONS/PURPOSES: We asked whether Grade 1 chondrosarcomas and enchondromas of uncertain malignant potential treated by curettage and cryosurgery are associated with low recurrence rates and high functional scores. PATIENTS AND METHODS: We retrospectively reviewed the records of 46 patients with Grade 1 chondrosarcomas and enchondromas of uncertain malignant potential treated by curettage and cryosurgery. Forty-one patients had tumors of the long bones. Patients were followed a minimum of 18 months (average, 47.2. months; range, 18-134 months) for evidence of recurrence and for assessment of Musculoskeletal Tumor Society (MSTS) functional score. RESULTS: Two of the 46 patients had recurrences in the original tumor site (4.3% recurrence rate), which subsequently were removed by wide excision, and both patients were confirmed to be disease-free 36 and 30 months, respectively, after the second surgery. The mean MSTS score was 27.2 of 30 points (median, 29 points). CONCLUSIONS: Our observations show curettage with cryosurgery is associated with low recurrence of Grade 1 chondrosarcoma and high functional scores. Curettage with cryosurgery is a reasonable alternative to wide or radical excision as the treatment for Grade 1 chondrosarcomas, and allows for more radical surgery in the event of local recurrence. LEVEL OF EVIDENCE: Level IV, therapeutic study. See the Guidelines for Authors for a complete description of levels of evidence.

Respiratory symptoms in a boy revealing Carney triad.

The association of gastrointestinal stromal cell tumor (GIST), paraganglioma, and pulmonary chondroma is known as the Carney triad, occurring predominantly in young adult females. We present the case of a 14-year-old male with respiratory symptoms resulting in the diagnosis Carney triad.

Sellar Chondroma with Endocrine Dysfunction that Resolved after Surgery: Case Report.

Chondromas originating from the sella turcica are rare, and the most common initial symptoms are headache and visual disturbance. We describe a case of sellar chondroma with endocrine impairment as an initial manifestation that completely resolved after surgery. A 40-year-old Japanese woman with amenorrhea and galactorrhea for the last 2 years was referred to our department of neurosurgery for the evaluation of high prolactin levels and a tumor in the sella turcica. A biochemical assessment indicated endocrine dysfunction. Magnetic resonance imaging and computed tomography indicated a tumor in the sella turcica. The patient's presentation favored the preoperative diagnosis of pituitary adenoma or Rathke's cleft cyst. However, because calcification was detected, other types of tumors, such as craniopharyngioma, meningioma, and chordoma, were also considered. Endoscopic transsphenoidal surgery was performed, and the possibility of a bony tumor was recognized. Finally, the tumor was completely removed, and the histopathological findings confirmed chondroma. The postoperative course was uneventful, and endocrine function improved. Five years after surgery, the patient is doing well without pituitary insufficiency, pituitary hormone medications, or signs of tumor recurrence. In cases of sellar chondroma, endocrine dysfunction sometimes precedes other symptoms, such as headache and visual disturbance. When examining a patient with an intrasellar tumor harboring calcification, clinicians must consider the possibility of sellar chondroma. Furthermore, to the best of our knowledge, this case is the first of sellar chondroma treated with endoscopic surgery to be reported.

Tenosynovial (extraarticular) chondromatosis: an analysis of 37 cases of an underrecognized clinicopathologic entity with a strong predilection for the hands and feet and a high local recurrence rate.

Tenosynovial chondromatosis is a multinodular cartilaginous proliferation that arises from the tenosynovial membranes. This report describes the clinical, radiologic, and histopathologic findings in 37 cases of this uncommon entity. There were 17 males and 20 females, ranging in age from 20 to 86 years (mean and median age, 46 years). The process involved tenosynovium of the fingers (n = 19), feet (n = 8), wrists (n = 4), ankles (n = 2), hand, not otherwise specified, or palm (n = 2), knee (n = 1), and forearm (n = 1). Signs of disease or symptoms were present for 5 weeks to 18 years (median duration, approximately 2 years) before surgical excision. The two most common complaints were a painless mass and a mass that was mildly tender with pressure. None of the tumors had clinical, radiologic, or histopathologic evidence of articular or bone involvement. Histologically, all tumors consisted of a multinodular cartilaginous proliferation involving tenosynovium and/or subsynovial connective tissue. Mild or moderate atypia, as encountered in chondroma of soft parts and synovial chondromatosis, was a frequent finding. Follow-up information was available for 16 patients (43%). Only two patients with follow-up information remained disease free after their initial surgical procedure. Seven patients had one recurrence and seven patients had two or more recurrences. Tenosynovial chondromatosis appears to be an extraarticular counterpart of synovial (intraarticular) chondromatosis. Our review indicates this process is often confused with chondroma of soft parts, in part, because both entities have a predilection for the hands and feet. Diagnosis of this underrecognized entity is of clinical importance because of the high local recurrence rate.

Osteochondroma of the mandibular condyle. Report of a case and review of the literature.

Osteochondroma (osteocartilaginous exostosis) is a rare tumour in the region of the mandibular condyle. Much confusion seems to exist in the literature in differentiating these tumours from condylar chondromas as well as from condylar hyperplasias. A case of condylar osteochondroma with a review of the literature is presented.

Synovial chondromatosis.

Two patients were evaluated for a complaint of long-standing hip pain. No etiology of their progressively disabling symptoms was found by routine diagnostic studies. Hip arthrography and arthrotomography in each case, however, demonstrated multiple intraarticular filling defects consistent with nonradiopaque loose bodies. These were subsequently confirmed at arthrotomy. Synovial chondromatosis is a rare disease in which intrasynovial cartilage metaplasia results in multiple intracapsular loose bodies. Its presence in plain radiographs is uncommon, but has been previously documented. This can account for frequent long delays in accurate diagnosis. Arthrography and/or arthrotomography, however, can be key diagnostic tools. They are recommended in the evaluation of patients whose relatively normal initial clinical examination, laboratory, and roentgenographic studies fail to adequately explain the presence of genuinely disabling symptoms.

[Right lumbo-crural sciatica due to a vertebral osteochondroma]. / Lombo-cruro-sciatique droite due à un ostéochondrome vertébral

The above case-report is about unilateral lumbar-crural-sciatalgie which has led to the finding of a spinal tumour situated within the articular block on the right side of the third and fourth lumbar vertebrae. The clinical picture produced by this slowly growing tumour was that of spinal root compression which has called for its surgical removal. Histological examination of the tumour revealed an osteochondroma, the original aspects of which lie in its localization, the presenting symptoms, the age of the patients an in its course.

[Synovial osteochondromatosis]. / L'osteocondromatosi sinoviale.

The Authors have examined the clinical history, roentgenograms, differential diagnosis and treatment of synovial osteochondromatosis.

[Vascularized peroneal reconstruction after bloc resection of tumors or congenital malformations of the upper limb in children]. / Reconstruction par péroné vascularisé après résection en bloc pour lésions tumorales ou malformation congénitale du membre supérieur chez l'enfant.

Limb salvage surgery is the standard care for most malignant tumor affecting the extremities in the child, and a vascularized fibula transfer is probably the most popular microsurgical option to reconstruct long-bone defects. Between 1994 and 1999, nine children with intractable diseases of the upper limb were treated using free vascularized fibula grafts (one patient had resection in 1983 and initially prosthetic reconstruction, then fibula transplant in 1996). There were 6 boys and 3 girls. Mean age was 10 years (between 6 and 16). Eight patients had defects after sarcoma resection, one had an aggressive enchondroma. The reconstructed sites were the humerus (= 6), the radius (n = 3). The length of the bone defect ranged from 8 to 19 cm (mean: 14.4 cm). The fibula head with the cartilage and the growth plate was used in 3 children. One girl, 4.5 years old with congenital pseudoarthrosis of radius and cubitus had a resection and reconstruction with a U shaped fibula transplant. One patient died from lung and brain metastasis, two years after the reconstruction. There were no local recurrences. The complications were numerous but usually benign; fracture of the grafted fibula n = 7, necessity of additional bone grafts (n = 4) malunion (n = 1) needed reoperation, pseudoarthrosis (n = 2) with reoperation, ankle valgus (n = 1) required reoperation, necrosis of the fibula head (n = 1), radial inclination (n = 1). The ten patients had bone union. The mean period required to obtain radiographic bone union was 5 months. The functional results of the remaining patients were evaluated according to the scale of ENNEKING. The results ranged from 21 to 30 points. Our results were satisfactory with regard to pain, emotional acceptance, manual dexterity. The vascularized fibula graft is indicated in children with large bone defects, more than 8 cm in the humerus, radius and ulna.

Images of a case of Carney triad by combined F-18 FDG PET/CT.

Carney triad is a very rare condition with gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paragangliomas. We present the images of a patient with the complete triad, including total gastrectomy for gastrointestinal stromal tumor at the age of 13, and a left pneumonectomy for pulmonary chondroma at the age of 15. Results of F-18 FDG PET/CT that was performed at age of 22 for recurrent pulmonary chondroma also demonstrated new lesions in the neck, mediastinum, and abdomen representing extra-adrenal paragangliomas.

Chondroma/Chondrosarcoma of the spine.

Chondromas and chondrosarcomas are cartilage-forming tumors that occur rarely in the spine. These neoplasms exist on opposite ends of the pathologic spectrum, ranging from the benign chondroma to the malignant, high-grade chondrosarcoma. Unlike other sarcomas, a patient's long-term prognosis is influenced by the grade of the tumor. A complete en bloc resection is the ideal method of surgical management. This method holds especially true for chondrosarcomas, and can result in prolonged survival. These tumors are resistant to conventional chemotherapy and radiation therapy. Hypofractionated stereotactic radiation therapy may slow tumor progression, although the long-term effect of this modality is unknown.

Gaze-induced laughter.

Pathological laughter was stimulated by pursuit eye movements with a large extramedullary brainstem tumour. Laughter was also evoked by intense direct light. The mechanism by which visual stimuli could induce pathological laughter is discussed.

Inverse activity of masticatory muscles with and without trismus: a brainstem syndrome.

Clinical and EMG findings in 10 cases of intrinsic brainstem lesions are reported with paradoxical activity of jaw closing muscles during jaw opening, with and without trismus. In five cases with trigeminal anaesthesia, the inverse activity of jaw closers is interpreted as a manifestation of disturbance in the central programming of mastication in the motor trigeminal area of the brainstem. Stretch reflex mechanisms and disinhibition of the trigeminal motor neurones play no part in the origin of inverse activity. The distinct brainstem syndrome can only be detected by EMG and the special clinical features.