Recurrent chondromyxoid fibroma of the distal femur treated with percutaneous cryoablation.

Chondromyxoid fibroma is a rare, benign tumor of the bone with excellent prognosis but a high rate of recurrence. We report a patient presenting with pain and a history of chondromyxoid fibroma of the distal left femur previously treated with multiple prior curettage and bone graft procedures. Magnetic resonance imaging and histopathology indicated a recurrence of tumor. Due to the small size of the tumor recurrence and challenges associated with prior open surgery, the patient underwent cryoablation of the lesion with computed tomography guidance. Follow-up 18 months later indicated a resolution of pain and improvement on magnetic resonance imaging, and no concerns after 20 months. To our knowledge, this is the first reported case of chondromyxoid fibroma treated with cryoablation. This case suggests cryoablation could be considered in the setting of recurrent chondromyxoid fibroma for local tumor control.

A rare case report of tenosynovial chondromatosis of the semimembranosus-medial collateral ligament bursa.

BACKGROUND: Synovial chondromatosis is an uncommon metaplastic process of the synovial lining that results in the formation of cartilaginous nodules within joints or their associated bursae or tendon sheaths. Radiologic evidence of mineralized bodies within these structures is typically pathognomonic for this condition. Extraarticular chondromatosis is rarer than intraarticular chondromatosis, and the knee is affected less frequently than the smaller joints of the hands and feet. To our knowledge, no reports describing this condition in the semimembranosus-medial collateral ligament (SM-MCL) bursa have been published. CASE PRESENTATION: We describe a case of tenosynovial chondromatosis in a 37-year-old woman. The case was atypical for both the location within the SM-MCL bursa and the paucity of radiodense or hypointense changes to support a clinical suspicion of chondroid metaplasia on radiographs and T2-weighted MRI, respectively. Recreational weightlifting and swimming by the patient were impaired by chronic pain, and restricted range of motion of the ipsilateral knee persisted despite extensive skilled physical therapy and injections of both corticosteroids and platelet-rich plasma. Thirteen months after a diagnostic and therapeutic knee arthroscopy, open surgical excision of the SM-MCL bursal body was performed, and knee pain and range of motion improved by the 6-week postoperative reevaluation. Pathologic evaluation of the excised tissue was consistent with tenosynovial chondromatosis. CONCLUSIONS: Synovial chondromatosis should be considered in the differential diagnosis for recalcitrant bursitis, even in the absence of classic imaging findings.

Tenosynovial chondromatosis of the wrist: A case report.

We report the case of an 80-year-old woman who presented with an asymptomatic slowly growing mass in the dorsal aspect of her right wrist. Radiographs revealed a snail-shaped radiopaque structure. Surgical exploration and excision revealed a calcified lesion over the extensor digitorum communis. Histopathological analysis confirmed the diagnosis of tenosynovial chondromatosis. At the last follow-up, four years after surgery, the patient was asymptomatic and free of recurrence. Practitioners and hand surgeons should be aware of the dorsal involvement and evocative radiological calcifications of tenosynovial chondromatosis, which is a rare benign soft tissue neoplasm that affects all tendon sheaths of the hand.

The Cell-Specific Role of SHP2 in Regulating Bone Homeostasis and Regeneration Niches.

Src homology-2 containing protein tyrosine phosphatase (SHP2), encoded by PTPN11, has been proven to participate in bone-related diseases, such as Noonan syndrome (NS), metachondromatosis and osteoarthritis. However, the mechanisms of SHP2 in bone remodeling and homeostasis maintenance are complex and undemonstrated. The abnormal expression of SHP2 can influence the differentiation and maturation of osteoblasts, osteoclasts and chondrocytes. Meanwhile, SHP2 mutations can act on the immune system, vasculature and nervous system, which in turn affect bone development and remodeling. Signaling pathways regulated by SHP2, such as mitogen-activated protein kinase (MAPK), Indian hedgehog (IHH) and phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K)/protein kinase B (AKT), are also involved in the proliferation, differentiation and migration of bone functioning cells. This review summarizes the recent advances of SHP2 on osteogenesis-related cells and niche cells in the bone marrow microenvironment. The phenotypic features of SHP2 conditional knockout mice and underlying mechanisms are discussed. The prospective applications of the current agonists or inhibitors that target SHP2 in bone-related diseases are also described. Full clarification of the role of SHP2 in bone remodeling will shed new light on potential treatment for bone related diseases.

Synovial chondromatosis of the flexor hallucis longus tendon sheath.

This case report discusses a rare case of secondary tenosynovial chondromatosis of the flexor hallucis longus (FHL). Synovial chrondomatosis is a rare, benign proliferative cartilaginous lesion arising from the synovial tissue or bursal lining of or near joints. When it is extra-articular, it is considered tenosynovial chondromatosis. The diagnosis is often delayed given the rarity of presentation and non-specific symptoms. The case was highly unusual in that hindfoot pain was caused by several centimetre-sized osteochondral bodies within the FHL tendon sheath. Anterior cheilectomy was performed. The patient returned to full activity following surgery without recurrence of the disease. The condition can be successfully treated operatively.

Temporomandibular joint synovial chondromatosis: An analysis of 7 cases and literature review.

OBJECTIVE: To investigate the diagnosis and treatment procedure of synovial chondromatosis (SC) of the temporomandibular joint (TMJ). METHODS: Clinical features, imaging features, surgical methods, and prognosis of 7 patients with SC of the TMJ were analyzed. We also reviewed and analyzed surgery-relevant literature included in the Pubmed database in the past decade using the search terms "synovial chondromatosis" and "temporomandibular joint", and found 181 cases. RESULTS: There was no specific difference in the symptoms of SC in the TMJ in different Milgram's stages in our cases and the cases mentioned in the literature. The main symptoms of SC in the TMJ were pain (100%, 7/7; 64.64%, 117/181), limited mouth opening (57.14%, 4/7; 53.59%, 97/181), swelling (14.29%, 1/7; 28.18%, 51/181), crepitus (28.57%, 2/7; 19.34%, 35/181), and clicking (14.29%, 1/7; 9.94%, 18/181) in our cases and cases from literature separately. The imaging features of SC were occupying lesions (including loose bodies or masses) (71.42%, 5/7; 37.57%, 68/181), bone change in condyle or glenoid fossa (1/7, 14.29%; 34.81%, 63/181), effusion (42.86%, 3/7; 20.99%, 38/181), joint space changes (42.86%, 3/7; 11.05%, 20/181) in our cases and cases from literature separately. The surgical procedures seem to depend mainly on the involved structures and the extension of the lesion rather than the Milgram's stage. CONCLUSIONS: The clinical features of SC in the TMJ are nonspecific and easy to be misdiagnosed. MRI is helpful in the diagnosis of SC in the TMJ. The surgical procedures mainly depend on the involved structures and the extension of the lesion.

Primary Distal Interphalangeal Joint Tenosynovial Chondromatosis of the Small Finger: A Case Report With Literature Review.

Primary synovial chondromatosis is a rare, benign proliferative disease of the joint synovium, tenosynovium, or bursal lining, in which cartilage metaplasia leads to the development of multiple intra-articular and periarticular loose osteocartilaginous bodies. This disease usually involves larger joints (knee, hip, elbow, and shoulder), but it has also rarely been reported in the hand. Patients with this disease complain of pain, swelling, nodules, and decreased range of motion of the affected joint. Due to its nonspecific symptoms and low prevalence, this disease often goes misdiagnosed, leading to delays in patient treatment. In the literature to date, there are only a few reports of primary synovial chondromatosis. In this case report, we present a patient with a rare case of primary synovial chondromatosis localized to right small finger distal interphalangeal joint.

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zygote are considered as genetically identical, and any differences likely to be caused by postzygotic events. Thus, phenotypically discordant monozygotic twins offer a unique opportunity to study genotype-phenotype correlation. Here, we present a three-generation family starting from a pair of monozygotic twins discordant for metachondromatosis due to postzygotic p.(Gln175His) variant in the PTPN11 gene. Both phenotypically discordant monozygotic twins harbor p.(Gln175His), however significant differences in mosaic ratio is observed not only between twins, but also within different tissue types within one individual. Phenotypic manifestation of p.(Gln175His) in examined family clearly depends on allele variant fraction (VAF). Individuals harboring constitutional mutation (VAF 50%) present typical metachondromatosis. Milder phenotype is observed in twin harboring high-level mosaicism in the tissue of ectodermal origin (VAF 45%), but not in a blood (VAF 5%). Finally, her twin sister harboring low-level mosaicism in blood (VAF 2%) and nonblood (VAF 12%) tissues is phenotypically normal. Our results provide insights into biological role of mosaicism in disease and further support the usefulness of nonblood tissues as an optimal source of DNA for the identification of postzygotic mutations in phenotypically discordant monozygotic twins.

A Rare Cause of Peripheral Facial Nerve Palsy: Chondromyxoid Fibroma of the Temporal Bone.

PURPOSE: To report a rather rare entity of facial palsy due to chondromyxoid fibroma. The authors present a case along with clinico-pathological features, management, treatment options and follow-up. METHODS: The authors present a case of a 29-year-old male who suffered from right facial weakness and numbness for a period of 6-months. imaging studies demonstrated a soft, locally invasive tumor, located mainly in the right temporal bone and extended extracranially. RESULTS: A surgical procedure of local excision followed by cross-facial nerve grafting was performed. CONCLUSIONS: Diagnosis should be based on combination of histo-pathologic and radiographic findings, because of its histological similarities to chondrosarcoma.

Extra-articular tenosynovial chondromatosis of the right fifth digit in a 59-year-old man: A case report and literature review.

Tenosynovial chondromatosis is a rare benign disorder characterized by formation of cartilaginous bodies within the synovia of the tendon sheaths. Most commonly present in the hands and feet. Clinical presentation and plain radiography can be inconclusive, which can lead to misclassification, most often confused as a chondroma of soft parts. In this case, we report the clinical, radiologic, and histology of a 59-year-old man who presented with a 1-year history of mass on the right fifth digit with limitation of motion secondary to this condition. Surgical excision revealed multiple cartilaginous nodules of varying size arising from the flexor tendon sheath. The diagnosis was confirmed postoperatively by surgical histopathology. The postoperative course of the patient was uncomplicated and has achieved an excellent functional recovery.

Biomarker expression related to chondromatosis in the temporomandibular joint.

Background: Synovial chondromatosis is usually detected at a late stage based on free bodies in joint space. The purpose of this study was to identify biomarkers for cell proliferation and chondrogenesis in the primary stage of synovial chondromatosis in the temporomandibular joint (TMJ).Clinical Presentation: A 67-year-old female was referred for right side TMJ pain. Magnetic resonance imaging (MRI) findings suggested an intra-joint space lesion, but no free bodies were observed intraoperatively. Pathological examination led to diagnosis of Milgram stage 1 synovial chondromatosis. Biomarkers related to mesenchymal stem cells (MSCs), cell proliferation, and chondrogenesis were observed in immunohistopathological examination of specimens.Clinical Relevance: The findings suggest that MSCs with chondrogenic potential and growth activity are present at the start of cartilage formation in the synovial membrane. These cells may be the origin of disease. Those findings improve understanding of the etiology and disease progression of synovial chondromatosis in the TMJ.

Subperiosteal chondromyxoid fibroma: a rare case involving the humeral diaphysis.

Initially described, in 1948, as a tumor that could be mistaken with chondrosarcoma at histopathology, chondromyxoid fibroma is now a well-recognized entity. Surface-type chondromyxoid fibroma, however, remains an extremely rare occurrence. We present a case of a 55-year-old woman, who experienced right arm pain for 5 years. After unsuccessful treatment for presumed thoracic outlet syndrome, MRI revealed a large mass abutting the anteromedial cortex of the distal humeral diaphysis in a subperiosteal location. Further characterization was made with radiography, CT, and bone scan, which were followed by ultrasound-guided biopsy. Although histopathologic features were suggestive of chondromyxoid fibroma, the diagnosis remained somewhat uncertain initially due to the very unusual location involving the diaphysis of the humerus. Surgical resection was performed, and subsequent histopathologic analysis confirmed the diagnosis of chondromyxoid fibroma. Despite being a rare entity, surface-type chondromyxoid fibroma would need to be considered in the differential when dealing with expansile surface diaphyseal lesions.

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare metabolic disorder characterized by developmental delay, hypotonia, and bi-allelic mutations in D-2-hydroxyglutarate dehydrogenase (D2HGDH) or a single gain-of-function mutation in isocitrate dehydrogenase 2 (IDH2). Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) is a type of D-2-HGA that has been previously reported in ten patients (OMIM 614875), three of whom had somatic mosaicism for R132 variants in isocitrate dehydrogenase 1 (IDH1). We describe a 3-year-old boy with MC-HGA who subsequently developed acute myeloid leukemia (AML) and was found to have an IDH1 R132C mutation in a leukemic bone marrow sample. Further testing revealed presence of somatic mosaicism for IDH1 R132C variant, suggesting an association of IDH1 in inducing myeloid leukemogenesis.

Clinical Results of Surgical Resection and Histopathological Evaluation of Synovial Chondromatosis in the Shoulder: A Retrospective Study and Literature Review

BACKGROUND: Synovial chondromatosis occurs rarely in the shoulder, and its details remain unclear. The purpose of this study was to clarify the clinical results of surgical resection and the histopathological findings of synovial chondromatosis in the shoulder.METHODS: Ten shoulders with synovial chondromatosis that had been operatively resected were reviewed retrospectively. Osteochondral lesions were present in the glenohumeral joint in six shoulders and in the subacromial space in four shoulders. Two patients had a history of trauma with glenohumeral dislocation without recurrent instability, and the other seven patients (eight shoulders) did not have any traumatic episodes or past illness involving the ipsilateral shoulder girdle. The occurrences of osteochondral lesions, inferior humeral osteophytes, and acromial spurs were assessed on radiographs before resection, just after resection, and at final follow-up. The Constant scores were compared before resection and at final follow-up with Wilcoxon signed-rank tests. Resected lesions were histopathologically differentiated between primary and secondary synovial chondromatosis.RESULTS: Inferior humeral osteophytes were found in five shoulders with synovial chondromatosis in the glenohumeral joint, and all four shoulders with synovial chondromatosis in the subacromial space had acromial spur formation. Osteochondral lesions appeared to have been successfully removed in all shoulders on postoperative radiographs. At the final follow-up, however, one shoulder with secondary synovial chondromatosis in the subacromial space showed recurrence of osteochondral lesions and acromial spur formation. The mean Constant score improved significantly from 53.0 points before resection to 76.0 points at a mean follow-up of 6.0 years (p = 0.002). On histopathological evaluation, one shoulder was diagnosed as having primary synovial chondromatosis, while nine shoulders had secondary synovial chondromatosis.CONCLUSIONS: The present study showed that resection of shoulder osteochondral lesions successfully relieved the clinical symptoms and that primary synovial chondromatosis is less common than secondary synovial chondromatosis in the shoulder. Although most of the present osteochondral lesions were clinically determined to be primary chondromatosis, only one case was histopathologically categorized as primary synovial chondromatosis. These results suggest that histopathological identification is needed to differentiate between primary and secondary synovial chondromatosis.

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.

[Syndromes with scales and keratosis]. / Syndrome mit Schuppung und Keratosen.

Approximately 9000 different phenotypes are known in medicine. The definition phenotype includes both manifest diseases as well as features without any disease value and the pure genetic disposition to develop a disease (e.g. tumors or complex diseases); however, most phenotypes are rare monogenic hereditary diseases. Approximately 6400 of these phenotypes have so far been elucidated by molecular genetics and are caused by mutations in 4064 different genes. Of all genetic diseases, an estimated one third are associated with skin symptoms. Genodermatoses are the phenotypes predominantly related to the skin, of which approximately 600 are familiar to dermatologists. The syndromes with scaling and keratosis include cornification disorders where the symptoms are not limited to the skin. They are associated with skin symptoms such as ichthyosis, erythroderma and palmoplantar keratoderma but show additional symptoms from other organ groups. The typical combination of symptoms may be unique to a syndrome and therefore seminal for the diagnosis.