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Indian Journal of Anaesthesia May 2019Maffucci syndrome is an extremely rare, sporadic, and nonhereditary disease characterized by enchondromatosis, bony abnormalities, and vascular malformations. We report...
Maffucci syndrome is an extremely rare, sporadic, and nonhereditary disease characterized by enchondromatosis, bony abnormalities, and vascular malformations. We report a successful anaesthetic management of an adult patient with Maffucci syndrome scheduled for surgical excision of parathyroid adenoma, who had numerous enchondromas, haemangiomas, and skeletal deformities involving different parts of the body and posing significant challenge during positioning, securing intravenous access, and insertion of endotracheal tube. Awareness about this syndrome is of paramount importance because similar patients may be encountered with increasing frequency for incidental or corrective surgeries.
PubMed: 31142885
DOI: 10.4103/ija.IJA_779_18 -
Archives of Pathology & Laboratory... Jan 2020Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection,... (Review)
Review
CONTEXT.—
Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection, depending on their locations and whether they are benign or malignant. They can be diagnostically challenging, particularly in small biopsies. In rare cases, benign tumors may undergo malignant transformation.
OBJECTIVE.—
To review common cartilaginous tumors, including in patients with multiple hereditary exostosis, Ollier disease, and Maffucci syndrome, and to discuss problems in the interpretation of well-differentiated cartilaginous neoplasms of bone. Additionally, the concept of atypical cartilaginous tumor/chondrosarcoma grade 1 will be discussed and its use clarified.
DATA SOURCES.—
PubMed (US National Library of Medicine, Bethesda, Maryland) literature review, case review of archival cases at the Massachusetts General Hospital, and personal experience of the authors.
CONCLUSIONS.—
This review has examined primary well-differentiated cartilaginous lesions of bone, including their differential diagnosis and approach to management. Because of the frequent overlap in histologic features, particularly between low-grade chondrosarcoma and enchondroma, evaluation of well-differentiated cartilaginous lesions should be undertaken in conjunction with thorough review of the imaging studies.
Topics: Bone Neoplasms; Chondroblastoma; Chondroma; Chondrosarcoma; Diagnosis, Differential; Humans
PubMed: 31877083
DOI: 10.5858/arpa.2019-0441-RA -
Anatolian Journal of Cardiology Apr 2022
Topics: Cardiology; Cardiovascular System; Hospitals; Humans; India; Italy
PubMed: 35435846
DOI: 10.5152/AnatolJCardiol.2021.960 -
Bulletin of the Hospital For Joint... Dec 2015Maffucci syndrome, a rare sporadic form of enchondromatosis, is characterized by hemangiomas and multiple enchondromas, benign cartilaginous tumors that arise near... (Review)
Review
Maffucci syndrome, a rare sporadic form of enchondromatosis, is characterized by hemangiomas and multiple enchondromas, benign cartilaginous tumors that arise near growth plates. Previous studies demonstrate that individuals diagnosed with Maffucci syndrome have approximately 100% lifetime risk of malignant transformation. Identification of Maffucci syndrome by surgical excision and pathological diagnosis can be life-saving due to its high malignant potential relative to other subtypes of enchondromatosis such as Ollier's disease. We report a case of a 58-year-old man with enchondromatosis who experienced malignant transformation of the enchondroma in his distal femur into a chondrosarcoma. He underwent a right distal femoral replacement without complications. Two years later, new masses were identified in his left hand and excised following progressive growth, pain, and functional limitation. Pathology confirmed these to be hemangiomas, and he was diagnosed with Maffucci syndrome. At last follow-up, patient reported additional nodular tumor growths occurring unilaterally on the left side. For patients with Maffucci syndrome, continual follow-up and careful surveillance of these masses is crucial as these lesions can cause fractures, deformities, pain, and undergo malignant transformation. Our report reviews the literature and outlines the treatment and management plans for patients with this rare and potentially dangerous disorder.
Topics: Biopsy; Cell Transformation, Neoplastic; Chondrosarcoma; Enchondromatosis; Femoral Neoplasms; Femur; Humans; Male; Middle Aged; Predictive Value of Tests; Radiography; Recurrence; Reoperation; Treatment Outcome
PubMed: 26630472
DOI: No ID Found -
Orphanet Journal of Rare Diseases Sep 2006Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are... (Review)
Review
Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation). The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.
Topics: Chondrosarcoma; Enchondromatosis; Humans; Prognosis; Risk Factors
PubMed: 16995932
DOI: 10.1186/1750-1172-1-37 -
Radiology Case Reports Oct 2022Maffucci syndrome is a non-hereditary congenital condition that affects the skin and skeleton. Enchondromas (benign cartilage enlargements), bone abnormalities, and...
Maffucci syndrome is a non-hereditary congenital condition that affects the skin and skeleton. Enchondromas (benign cartilage enlargements), bone abnormalities, and venous anomalies (hemangiomas) are all symptoms. Enchondromas occur as a result of mesodermal dysplasia and have the potential to become cancerous. They are most commonly found on the phalanges and long bones. Venous abnormalities commonly manifest themselves as soft lumps or tumors on the distal extremities. A 19-year-old boy presented with swellings on his fingers and left foot since the age of 5, along with a few bluish soft tissue swellings on his left heel. Multiple expansile lytic lesions and soft tissue swellings with phleboliths were seen on X-ray. Histology confirmed the diagnosis of hemangiomas and enchondromas. Soft tissue swellings were found to have hyper echoic areas, as well as modest marginal blood flow on Doppler, which could indicate hemangiomas. Maffucci syndrome was identified, and treatment with a multidisciplinary approach was initiated. Maffucci syndrome is a rare genetic illness reported in the literature less than 200 times. The enchondromas and hemangiomas have a strong link to malignant changes, with chondrosarcomas accounting for 30% of the associated malignancies. On X-ray, enchondromas are easily identified as osteolytic lesions with cortex thinning and endosteal scalloping while color Doppler ultrasound detects the presence of hemangiomas. Phleboliths are easily identified as small calcifications on X-rays. Radiographic examinations should be considered in patients presenting with bone or soft tissue swellings for an early diagnosis of Maffucci syndrome.
PubMed: 35936883
DOI: 10.1016/j.radcr.2022.07.008 -
Annals of Saudi Medicine Jul 1997
PubMed: 17353600
DOI: 10.5144/0256-4947.1997.451 -
Frontiers in Endocrinology 2021Maffucci's syndrome is characterized by the coexistence of multiple enchondromas and soft-tissue hemangiomas. It has been clear that somatic mosaic isocitrate...
BACKGROUND
Maffucci's syndrome is characterized by the coexistence of multiple enchondromas and soft-tissue hemangiomas. It has been clear that somatic mosaic isocitrate dehydrogenase type 1 (IDH1) or isocitrate dehydrogenase type 2 (IDH2) mutations are associated with Maffucci's syndrome and Ollier disease, but the mechanisms underlying hemangiomas of the Maffucci's syndrome is still obscure. This study aimed to determine the mechanism of hemangiomas in Maffucci's syndrome.
METHODS
We received a 26-year-old female patient with typical Maffucci's syndrome, and exome sequencing was conducted using DNA from her peripheral blood and enchondroma tissues. Somatic mutations were characterized by a comparative analysis of exome sequences and further confirmed by the sequencing of PCR products derived from original blood and tissue samples. The mutations of an additional 69 patients with Ollier disease were further tested. The functional impacts of these somatic mutations on Maffucci's syndrome, especially the development of hemangiomas, were evaluated.
RESULTS
We reported a typical case of Maffucci's syndrome, which was confirmed by both imaging findings and pathology. Through exome sequencing of this patient's DNA samples, we identified an R132C mutation in the isocitrate dehydrogenase type 1 (IDH1) gene and an L309I mutation in the ELKS/RAB6-interacting/CAST family member 2 (ERC2) gene in this patient. Approximately 33.3% of the clones were positive for the IDH1 R132C mutation, and 19.0% of the clones were positive for the ECR2 L309I mutation. The IDH1 R132C mutation was detected in most of the patients with Ollier disease (51/69 patients), and the mean frequency of this mutation was 63.3% in total sequence readouts, but the ECR2 L309I mutation was absent in all of the patients with Ollier disease. experiments confirmed that the IDH1 R132C mutation promotes chondrocyte proliferation, and the ERC2 L309I mutation enhances angiogenesis.
CONCLUSIONS
Our results suggest that while IDH1 is a known pathogenic gene in enchondromatosis, ERC2 is a novel gene identified in Maffucci's syndrome. The somatic L309I mutation of ERC2 contributes to the pathogenesis of hypervascularization to facilitate the development of hemangiomas in Maffucci's syndrome. The combination of the IDH1 R132C and ERC2 L309I mutations contributes to the development of Maffucci's syndrome, and these results may enable further research on the pathogenesis of Maffucci's syndrome.
Topics: Adaptor Proteins, Signal Transducing; Adult; Cytoskeletal Proteins; Enchondromatosis; Female; Humans; Isocitrate Dehydrogenase; Mutation; Exome Sequencing
PubMed: 34790172
DOI: 10.3389/fendo.2021.763349 -
Experimental and Therapeutic Medicine Sep 2023Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally;...
Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.
PubMed: 37602309
DOI: 10.3892/etm.2023.12134 -
Case Reports in Oncology 2021Maffucci syndrome is characterized by multiple hemangiomas and enchondromas. Somatic mutations in and are associated with the development of Maffucci syndrome, and...
Maffucci syndrome is characterized by multiple hemangiomas and enchondromas. Somatic mutations in and are associated with the development of Maffucci syndrome, and these patients develop various malignant nonskeletal tumors in addition to malignant skeletal tumors. We report a case of Maffucci syndrome with mutation complicated by intrahepatic cholangiocarcinoma. The patient was a 35-year-old woman who was diagnosed with Maffucci syndrome in childhood. She was referred to our department because of a large hepatic tumor. Serum carcinoembryonic antigen was 27.1 ng/mL upon laboratory examination. CT scanning showed a large low-density tumor (90 × 70 mm) in the right lobe of the liver, and MRI revealed a multilobulated and fibrous tumor, which was observed as high signal intensity on T2- and diffusion-weighted images and low signal intensity on T1-weighted images. Positron emission tomography-CT revealed peritoneal dissemination and cancer spread to the muscles of the back. Finally, she was diagnosed with intrahepatic cholangiocarcinoma with dissemination and metastases. We performed a tumor biopsy to determine a treatment plan for chemotherapy. Sanger sequencing of a tumor biopsy identified a mutation in at c.394C>T (R132C), but the patient died of rapid cancer progression before the chemotherapy could be initiated. Although rare, malignant tumors can develop in patients with Maffucci syndrome; therefore, it is necessary to monitor these tumors through careful and periodic observation.
PubMed: 34720940
DOI: 10.1159/000515779