Extraskeletal Intramuscular Chondroma of the Knee - Case Report and Review of the Literature.

Extraskeletal chondromas are small nodular cartilaginous lesions not attached to bone or the periosteum. They are rare tumors commonly occurring in the hands and feet. The objective of the present study is to describe a case of extraskeletal intramuscular chondroma (EIC) in the left knee and the diagnostic challenges faced by us. A 25-year-old female patient presented with slow-growing swelling in the left knee for 2 years. Clinically, the swelling was arising from the quadriceps muscle. We considered possibilities such as rhabdomyoma, neurofibroma, and intramuscular lipoma. Imaging studies suggested a benign fatty tumor. She was treated by excision. Microscopy was consistent with EIC without recurrence. A rare entity, clinically, EIC can mimic other benign soft-tissue tumors. Histopathology exams can provide a definitive diagnosis. The excision of the tumor is curative.

Laryngeal chondromas: Current knowledge and future directions.

Objective: Cartilaginous tumors of the larynx are rare, representing less than 1% of all laryngeal tumors. Chondromas are benign mesenchymal tumors characterized by a slow-paced growth, primarily originated in the cricoid cartilage, followed by the thyroid, arytenoid, and epiglottic cartilages. This scoping review aims to understand the extent of evidence on the epidemiology, clinical characteristics, morbidity, and recurrence of the laryngeal chondroma (LC). Data sources: MEDLINE (Ovid), Embase (Elsevier), Web of Science (Clarivate), Cochrane Central Register of Controlled Trials and Systematic Reviews, Lilacs, Scopus, and Google Scholar databases. Review methods: The scoping review was conducted from 1816 to 2023, for observational studies describing LC. Titles and abstracts were screened for relevance, followed by an evaluation of the full text for eligibility. The data were collected from the qualifying articles, and a narrative summary of the outcomes was prepared. Results: One hundred and nineteen studies met the inclusion criteria. Ninety-four case reports, 22 case series, and 3 cohorts. Two hundred and four participants with a diagnosis of LC were described. Male:female ratio was 2.8:1. The most common localization was the cricoid (113; 47.08%), followed by the thyroid (45; 18.75%), and the arytenoid cartilage (27; 11.25%). Dyspnea (78.85%) and hoarseness (74.28%) were the most reported symptoms. The recurrence rate was 11.25%, and complications were uncommon following the resection. Conclusion: This scoping review found a low-frequency rate over all the cartilaginous laryngeal tumors. Most patients were treated with resection, with a low rate of malignancy conversion. This population has low attributable mortality, morbidity, and recurrence according to the current literature.

Atypical Presentation of Periosteal Chondroma of the Talus in a 9-Year-Old Boy: A Case Report.

Introduction: ?Introduction: Periosteal chondromas are rare, slow-growing, benign cartilaginous tumors arising from the cortical surface of the bone, beneath the periosteal membrane. Typically affect young males, the most common site being the proximal humerus. There have been no reported cases of periosteal chondroma of the talus in the literature. Case Report: A 9-year-old Indian boy presented with a 1.5-year history of atraumatic right ankle pain and swelling, exacerbated by walking, with limited dorsiflexion. Physical examination revealed a firm, painless swelling on the anterior ankle's talar region, accompanied by equinus deformity. Radiography displayed osseous masses on the anterior talus. Magnetic resonance imaging indicated well-defined osseous growths originating from the talus's anterior aspect, likely osteochondromas, with adjacent osseous fragments in the tibiotalar joint, suggestive of loose bodies, supporting a clinical diagnosis of synovial chondromatosis. Surgical excision revealed whitish, hard, irregular tissue, confirmed as periosteal chondroma on histopathology. After 6 months, the patient is pain-free with unrestricted movement and no clinical or radiological signs of recurrence. Conclusion: This case report presents a unique instance of previously unreported talus periosteal chondroma, adding novelty to medical literature. It details the diagnostic challenges and its intricacies. It provides a comprehensive overview of clinical presentation, imaging and histopathological findings, differentials and provisional diagnosis, surgical approach, and post-operative outcomes. The successful surgical management, along with the specific details of the surgical procedure (anteromedial approach, excision, and curettage), adds practical insights for orthopedic surgeons and contributes to the existing knowledge on treatment strategies for talus periosteal chondroma. This report will serve as an excellent educational resource.

Intracranial extra-axial chondromas: clues to computed tomography and magnetic resonance imaging diagnosis.

AIM: We aimed to describe the computed tomography (CT) and magnetic resonance (MR) imaging findings of intracranial extra-axial chondroma. MATERIAL AND METHODS: We retrospectively evaluated the imaging findings of CT and MR examinations of six patients (three men and three women, aged 21-66 years) with histopathological diagnoses of intracranial extra-axial chondroma. RESULTS: Four tumors were located in the frontal region and two in the cavernous sinus. All the tumors showed low signals on diffusion-weighted images and high signals on apparent diffusion coefficient maps without restricted diffusion. There was no perifocal edema in all the tumors. Cavernous sinus chondromas were associated with bone erosion and anterior displacement of the internal carotid arteries, but without calcification. Calcification was present in all frontal chondromas. All the tumors revealed low signals on T1-weighted MR images. Frontal chondromas revealed mixed signals, but cavernous sinus chondromas were brightly hyperintense on T2-weighted MR images. No enhancement was detected in the two chondromas. An intense homogeneous enhancement was detected in a cavernous sinus chondroma. CONCLUSION: The imaging appearances of frontal extra-axial chondromas and cavernous sinus chondromas may have different imaging appearances. Although there is a wide range of imaging findings, the absence of restricted diffusion, perifocal edema, enhancement, and presence of low signals on T1-weighted MR images in a well-circumscribed calcified extra-axial mass should suggest an intracranial chondroma.

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

DICER1 tumor predisposition syndrome is a pleiotropic disorder that gives rise to various mainly pediatric-onset lesions. We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline "hotspot" missense DICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant impairs 5p cleavage of precursor-miRNA (pre-miRNA) and competes with wild-type (WT) DICER1 protein for pre-miRNA processing. These results suggest a mechanism through which a germline RNase IIIb variant could impair pre-miRNA processing without complete LOF of the WT DICER1 allele.

A retrospective external validation study of the Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) for the management of solitary central cartilage tumours of the proximal humerus and around the knee.

OBJECTIVES: This study aimed to externally validate the Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) recommendations for differentiation/follow-up of central cartilage tumours (CCTs) of the proximal humerus, distal femur, and proximal tibia and to propose BACTIP adaptations if the results provide new insights. METHODS: MRIs of 123 patients (45 ± 11 years, 37 men) with an untreated CCT with MRI follow-up (n = 62) or histopathological confirmation (n = 61) were retrospectively/consecutively included and categorised following the BACTIP (2003-2020 / Ghent University Hospital/Belgium). Tumour length and endosteal scalloping differences between enchondroma, atypical cartilaginous tumour (ACT), and high-grade chondrosarcoma (CS II/III/dedifferentiated) were evaluated. ROC-curve analysis for differentiating benign from malignant CCTs and for evaluating the BACTIP was performed. RESULTS: For lesion length and endosteal scalloping, ROC-AUCs were poor and fair-excellent, respectively, for differentiating different CCT groups (0.59-0.69 versus 0.73-0.91). The diagnostic performance of endosteal scalloping and the BACTIP was higher than that of lesion length. A 1° endosteal scalloping cut-off differentiated enchondroma from ACT + high-grade chondrosarcoma with a sensitivity of 90%, reducing the potential diagnostic delay. However, the specificity was 29%, inducing overmedicalisation (excessive follow-up). ROC-AUC of the BACTIP was poor for differentiating enchondroma from ACT (ROC-AUC = 0.69; 95%CI = 0.51-0.87; p = 0.041) and fair-good for differentiation between other CCT groups (ROC-AUC = 0.72-0.81). BACTIP recommendations were incorrect/unsafe in five ACTs and one CSII, potentially inducing diagnostic delay. Eleven enchondromas received unnecessary referrals/follow-up. CONCLUSION: Although promising as a useful tool for management/follow-up of CCTs of the proximal humerus, distal femur, and proximal tibia, five ACTs and one chondrosarcoma grade II were discharged, potentially inducing diagnostic delay, which could be reduced by adapting BACTIP cut-off values. CLINICAL RELEVANCE STATEMENT: Mostly, Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) assesses central cartilage tumours of the proximal humerus and the knee correctly. Both when using the BACTIP and when adapting cut-offs, caution should be taken for the trade-off between underdiagnosis/potential diagnostic delay in chondrosarcomas and overmedicalisation in enchondromas. KEY POINTS: • This retrospective external validation confirms the Birmingham Atypical Cartilage Tumour Imaging Protocol as a useful tool for initial assessment and follow-up recommendation of central cartilage tumours in the proximal humerus and around the knee in the majority of cases. • Using only the Birmingham Atypical Cartilage Tumour Imaging Protocol, both atypical cartilaginous tumours and high-grade chondrosarcomas (grade II, grade III, and dedifferentiated chondrosarcomas) can be misdiagnosed, excluding them from specialist referral and further follow-up, thus creating a potential risk of delayed diagnosis and worse prognosis. • Adapted cut-offs to maximise detection of atypical cartilaginous tumours and high-grade chondrosarcomas, minimise underdiagnosis and reduce potential diagnostic delay in malignant tumours but increase unnecessary referral and follow-up of benign tumours.

Giant skull base periosteal chondroma treated with endonasal endoscopic surgery: illustrative case.

BACKGROUND: Intracranial chondroma is an extremely rare type of tumor composed of mature hyaline cartilaginous tissues. No previous cases of skull base periosteal chondroma have been presented. OBSERVATIONS: A 31-year-old male had progressive memory loss and diminished motivation for the previous 1.5 years. Magnetic resonance imaging revealed a giant tumor with partial calcification arising from the upper clivus and extending to the prepontine cistern. Compression of the brainstem and hypothalamus was significant. Surgery was performed and intentionally limited to an intracapsular resection with endoscopic endonasal surgery (EES), and the brainstem and hypothalamus were successfully decompressed. Pathological examination findings showed a composition of hyaline cartilage with chondrocyte clusters. Genetic testing with next-generation sequencing indicated alternations in IDH1 R132C, KDR Q472H, IDH2 I142L, and TP53 P72R. On the basis of these findings, a diagnosis of periosteal chondroma was made. Postoperatively, complete relief from all symptoms was noted, and MRI one year later showed no evidence of tumor regrowth. LESSONS: This is the first known report of skull base periosteal chondroma. Genetic testing was useful for confirming the diagnosis, and EES was effective for treatment. Should such a tumor show adhesion to an important structure, an intracapsular excision can be beneficial for avoiding complications.

Calcified Chondroid Mesenchymal Neoplasms.

Calcified chondroid mesenchymal neoplasms (CCMN) represent a morphologic spectrum of related tumors. Historically, chondroid matrix or chondroblastoma-like features have been described in soft tissue chondroma, tenosynovial giant cell tumors (especially of the temporomandibular joint (TMJ) region), and in a subset of tophaceous pseudogout. Recently, these tumors have been found to share FN1-receptor tyrosine kinase (RTK) fusions. This review discusses the clinical, morphologic, immunohistochemical, and molecular genetic features of CCMN. The distinction from morphologic mimics is also discussed.

Rare Case of a Clival Chondroma Resulting in Panhypopituitarism.

Chondromas are rare benign tumors composed of hyaline cartilage that can arise in various locations in the body. Their occurrence in the clivus, leading to panhypopituitarism, is exceptionally rare. This case report describes a 93-year-old female with a known clival chondroma who presented with altered mental status, presumed to be secondary to toxic metabolic encephalopathy due to an infectious cause. Further diagnostic evaluation revealed pituitary hormone levels below the normal range. This case report aims to highlight a unique case of panhypopituitarism attributed to a chondroma in the clivus with tumor extension to the sellar region, emphasizing the diagnostic challenges and treatment options for this unusual pathology.

Encondroma: a propósito de un caso / Enchondroma: a case report

RESUMEN Fundamento: los tumores óseos son lesiones frecuentes, cada tipo histológico tiene patrones típicos que los identifican. Sin embargo, en ocasiones se pueden presentar de forma atípica. Objetivo: conocer el caso de una paciente con encondroma en la región proximal de la tibia derecha. Presentación del caso: mujer de 74 años de edad, blanca con antecedentes de hipertensión arterial y asma bronquial, la cual acude a la consulta de Ortopedia y Traumatología por dolor a nivel de la rodilla derecha que aumenta con la actividad física y se acompaña de limitación funcional y crepitación articular. La tomografía axial computarizada mostró imagen osteoblástica a nivel de la meseta tibial derecha sin ruptura de la cortical. Además se evidenció múltiples quistes subcondrales de aspecto degenerativo, presencia de osteofitos tibiales, femorales ipsi y contralateral, espacio femoro-rotuliano muy disminuido asociado a esclerosis del cóndilo femoral. Con los elementos descritos se decidió llevar la paciente al quirófano, para tratamiento de tipo quirúrgico. Se realizó exéresis de la tumoración, la que fue enviada al departamento de anatomía patológica para estudio histológico que confirmó el diagnóstico. La zona de hueso extraída se llenó con cemento quirúrgico. Conclusiones: el encondroma es un tumor benigno de origen cartilaginoso, su presencia por encima de los 40 años de edad es ocasional y constituye el principal diagnóstico diferencial del condrosarcoma de bajo grado histológico. Debido a lo infrecuente de esta afección fuera de su rango de edades, es necesaria la biopsia para confirmar el diagnóstico.

ABSTRACT Background: bone tumors are common lesions, there are specific features related to each histological type, but unusual and atypical presentations do occur. Objetive: to show the case of a patient with an enchondroma in the proximal right tibial plateau. Case report: a 74 year old white woman, who had had previous personal history of hypertension and asthma is taken to the Orthopaedic and Traumatology outpatient department complaining of right knee pain which gets worse with physical activity associated to limited range of motion and articular crepitus. CT scan showed an osteoblastic lesion in the proximal upper right tibial plateau without cortical breaking. On the other hand, multiple subchondral degenerative cysts were found in the knee joint as well as osteophytes, sclerosis and joint space narrowing. Taken into account the entire previous patient' features, surgery was performed and consist of tumor resection with bone cement filled. The specimen was send to the pathology department showing enchondroma. Conclusions: enchondroma is a benign cartilaginous bone tumor unfrequently found over 40 years of age, the main differential diagnosis is low grade chondrosarcoma. Because of the infrequent presentation of this case in regards to age, surgery was warranted to confirm diagnosis.

¿Qué debe saber el neurocirujano sobre condrosarcoma espinal primario? Condrosarcoma espinal primario / What should the neurosurgeon know about primary spinal chondrosarcoma? Primary spinal chondrosarcoma

El condrosarcoma ocupa el tercer puesto dentro de las neoplasias óseas primarias, siendo la columna vertebral una localización inusual. Según su etiología se clasifican en condrosarcoma primario o secundario a lesiones subyacentes de tipo cartilaginosa como el encondroma u osteocondroma; siendo entre el 80-90% de bajo grado. Pueden presentarse en cualquier nivel de la columna vertebral, siendo más frecuente en la región torácica y cervical, comprometiendo los elementos posteriores de la vértebra, los cuerpos vertebrales o ambos, en un 40%, 15% y 45% respectivamente. El síntoma más común es el dolor localizado asociado a manifestaciones neurológicas. El método diagnóstico de elección es la biopsia por punción y el tratamiento se basa fundamentalmente en la resección quirúrgica

Chondrosarcoma occupies the third position within the primary bony neoplasia's, with an unusual location at the level of the spine. According to their etiology, they are classified as primary chondrosarcoma or secondary to underlying cartilaginous lesions such as the enchondroma or osteochondroma, being between 80-90% of low grade. They can occur at any level of the spine, being more frequent in the thoracic and cervical region, compromising the posterior elements of the vertebra, the vertebral body or both, by 40%, 15% and 45% respectively. The most common symptom is localized pain associated with neurological manifestations. The diagnostic method of choice is biopsy and treatment is based primarily on surgical resection.

Hidrocefalia asociada a un condroma vertebral lumbar: presentación de un caso / Hydrocephalus associated with a lumbar vertebral chondroma: presentation of a case

RESUMEN Fundamento: los osteocondromas son tumores benignos del hueso que se localizan por lo general, en esqueleto axial y su vínculo con hidrocefalia es inusitado dadas las características fisiopatológicas de ambas enfermedades. Objetivo: presentar un caso operado de condroma vertebral lumbar que desarrolló una hidrocefalia. Presentación del caso: paciente de 43 años de edad, masculino, que acudió con manifestaciones neurológicas de compresión radicular lumbar que no aliviaban con tratamiento sintomático. Se operó por vía lumbar posterior y se realizó laminectomía estándar con resección quirúrgica de la lesión, se confirmó el diagnóstico de un condroma y un mes posterior a la excéresis apareció una hidrocefalia. Conclusiones: los condromas espinales de localización lumbar son infrecuentes y la aparición de hidrocefalia en el postoperatorio de esta lesión es más inusual.

ABSTRACT Background: osteochondromas are benign tumors of the bone that are located, generally, in axial skeleton and their association with hydrocephalus is infrequent due to physiopathologic characteristics of both diseases. Objective: to present an operated case of lumbar vertebral chondroma that developed a hydrocephalus. Case report: a 43-years-old male patient who came with neurological manifestations of lumbar radicular compression that was not relieved with symptomatic treatment. The surgical resection of the lesion is performed and the diagnosis of a chondroma is confirmed and hydrocephalus appears one month after the surgery. Conclusions: the spinal chondromas of lumbar location are infrequent and the appearance of hydrocephalus in the postoperative period of this lesion is more unusual.

Condroma del espacio parafaríngeo, reporte de un caso / Chondroma of the parapharyngeal space, report of one case

Introducción. El condroma es una neoplasia benigna de origen mesenquimal y de etiología desconocida, muy infrecuente en los tejidos blandos debido a su constitución de células de cartílago maduro sin hueso; sin embargo, son frecuentes las calcificaciones focales. Al presentarse en cabeza y cuello, suele hacerlo en el maxilar o el paladar duro, y son pocos los reportes de este tumor en el espacio parafaríngeo. Se reporta el caso de una paciente de 68 años de edad, que acudió a consulta por dolor en el paladar blando, cefalea y dolor paratiroideo izquierdo asociado a disfagia de cuatro años de evolución. Se practicaron los estudios pertinentes y, finalmente, se confirmó el diagnóstico de condroma mediante biopsia. Discusión. Los condromas muy rara vez se encuentran en los tejidos blandos, por lo cual se sugiere que el diagnóstico sea cuidadosamente orientado para descartar una posible malignidad de la lesión y que los controles posquirúrgicos sean frecuentes

Introduction: Chondroma is a benign neoplasm of mesenchymal origin and of unknown etiology, very infrequently appearing in the soft tissues due to its constitution of mature cartilage cells without bone; however, they usually present focal calcifications. When occurring in the head and neck, they usually appear in the jaw or hard palate. Just a few cases of this pathology are reported in the pharynx. Materials and Methods: We present a case of a female 68 years old, who came to the clinic due to pain in the soft palate, headache and left parathyroid pain associated with dysphagia, of four years of evolution. Corresponding studies were carried out and finally the diagnosis of chondroma was confirmed by biopsy. Discusion: Chondromas are rarely found in the soft tissues, suggesting that the diagnosis should be carefully oriented to rule out possible malignancy of the lesion and that post-surgical controls should be frequent

Tríada de Carney. Una rara asociación de tumores infrecuentes: caso clínico / Carney triad: report of one case

Carney described a disorder characterized by the presence of several uncommon tumors which were pulmonary chondromas, gastric sarcomas and extra-adrenal paragangliomas. We report a 14 year-old girl in whom multiple gastric tumors were discovered during a study of an iron deficiency anemia and was subjected to a partial gastrectomy. At 25 years of age, she developed several pulmonary chondromas and at 33 years, a mediastinal tumor with features of an extra-adrenal paraganglioma was found. At 35 years of age, a total gastrectomy was performed to remove a gastrointestinal stromal tumor with excision of peritoneal and lymph node metastasis. One year later, the patient died due to liver failure secondary to liver metastases.

Tumor condroide del cartílago tiroides: reporte de un caso clínico y revisión de la literatura / Chondroid tumor of the thyroid cartilage: case report and literature review

Los tumores condroides de la laringe son poco frecuentes, y generalmente se ubican en el cartílago cricoides. El tratamiento de elección es quirúrgico, con buen pronóstico general. Se presenta el caso de un hombre de 60 años con historia de disfonía. El estudio nasofaringolaringofibroscópico revela una masa laríngea supraglótica. Las imágenes son compatibles con una lesión del cartílago tiroides. La biopsia obtenida por microlaringoscopía directa informa tumor compatible con condroma. Se realiza una resección completa de la masa por abordaje externo, la biopsia corrobora el diagnóstico de tumor condroide de bajo grado. Se describe esta patología mediante revisión bibliográfica.

Chondroid tumors of the larynx are uncommon, and usually located in the cricoid cartilage. Surgery is the treatment of choice, with good prognosis in general. We report the case of a 60-year-old man consulting for dysphonia. The nasopharyngolaryngoscopy showed a supraglottic laryngeal mass. The images were compatible with a thyroid cartilage lesion. The biopsy sample obtained by direct microlaryngoscopy was consistent with a condroma. A complete excision of the lesion was performed by external approach and the biopsy confirmed the diagnosis of a low grade chondroid tumor. We present a review of chondroid tumors of the larynx based on available literature.

Síndrome incompleto de Carney / Incomplete Carney's triad

El síndrome de Carney es una enfermedad rara, con diferentes formas de presentación, que afecta principalmente al sexo femenino y es asintomática en la mayoría de los casos. Se caracteriza por la aparición de tumores, generalmente benignos, principalmente en el pulmón, la glándula suprarrenal y el estómago; sin embargo, se pueden afectar otros órganos como el esófago. Su tratamiento es principalmente quirúrgico. Se presenta el caso de una paciente con síndrome incompleto de Carney, manejada quirúrgicamente, con excelente resultado posoperatorio. Se hace una revisión de la literatura científica actual.

Carney's triad is a rare condition with multimodal presentations, which affects mainly females and remains asymptomatic in most cases. It is characterized by the appearance of tumors, usually benign, in lung, adrenal, and stomach, but it can also affect other organs like the esophagus. Treatment of these lesions is primarily surgical. The objective of this paper is to review the current literature and to report a case of an incomplete Carney's triad managed surgically with excellent postoperative results.

Chondroma of the Cerebral Falx: Case Report of a Very Rare Intracranial Tumor / Condroma da foice do cérebro: relato de caso de um tumor intracraniano muito raro

Chondromas are a benign cartilaginous tumor that account for approximately 0.5% of primary intracranial tumors. They usually arise from the synchondrosis of the skull base, being rarely reported elsewhere (dura convexity, falx, or even intraparenchymal). Because they are very rare tumors sharing clinical behavior and imagiological similarities with the much more common meningioma, the clinical diagnosis is frequently mistaken after an initial imaging workup. The authors present a case of a 48-year-old woman, with frequent headaches and an extra-axial tumor arising from the anterior falx, initially diagnosed as a meningioma.

Condromas são tumores cartilaginosos benignos que correspondem por aproximadamente 0,5% dos tumores primários intracranianos. Eles geralmente surgem da sincondrose da base do crânio, sendo raramente registrados em outros locais como a convexidade dural, a foice, até mesmo no parênquima cerebral. Por serem tumores muito raros que compartilham comportamento clínico e imagiológico com meningiomas, o diagnóstico é frequentemente confundido após exame de imagem inicial. Os autores apresentam o caso de uma mulher de 48 anos, com cefaleia frequente e um tumor extra-axial ascendendo da foice anterior, inicialmente diagnosticado como um meningioma.