Maffucci syndrome | Radiology Reference Article - Radiopaedia.org
2024年5月15日 · Maffucci syndrome is a congenital nonhereditary, sporadic, mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations and/or spindle-cell hemangiomas 6,7, generally caused by somatic mutations in IDH1 or IDH2 6.
Enchondroma and Enchondromatosis Imaging - Medscape
2023年4月12日 · Radionuclide bone scanning is one method used to assess lesions depicted on radiographs or MRIs that are presumed to be enchondromas. If the bone scan results are...
Maffucci Syndrome: Overgrowths of Cartilage (Enchondromas)
Maffucci syndrome is a rare genetic disorder. It causes benign tumors in cartilage (enchondromas), usually in your hands. The condition can cause bone pain, skeletal abnormalities and fractures. It also involves abnormal tangles of blood vessels on your skin (hemangiomas). People with the syndrome should receive regular screenings for cancer.
Bone Scintigraphy Findings of A Case with Maffucci’s Syndrome
2010年4月21日 · Whole-body bone scintigraphy might be helpful for detecting skeletal involvement. We present a case of Maffucci’s syndrome using bone scintigraphy to evaluate the extent of the disease.
Maffucci Syndrome: Causes, Diagnosis, Treatment, & Prognosis
Radiological imaging is crucial in diagnosing Maffucci Syndrome and differentiating it from similar conditions like Ollier disease. Enchondromas: X-rays reveal lytic lesions with characteristic calcifications within the medullary cavity of bones. The lesions appear as expanded, radiolucent areas with endosteal scalloping.
Maffucci Syndrome with Multiple Soft-Tissue Hemangiomas
Computed tomography (CT) scan of the right lower limb extending up to mid abdomen was suggestive of Maffucci syndrome with soft-tissue hemangioma and intraosseous enchondromas in the tibia and femur. This case is being reported for its rarity.
Update on the imaging features of the enchondromatosis …
2021年7月24日 · In this review, we outline the molecular genetics, pathology and multimodality imaging features of solitary enchondroma, Ollier disease and Maffucci syndrome, along with their associated skeletal complications, in particular secondary chondrosarcoma. Given the lifelong risk of malignancy, imaging follow-up will also be explored.
AIRP Best Cases in Radiologic-Pathologic Correlation: Maffucci Syndrome
2013年5月3日 · Spindle cell hemangioendotheliomas associated with multiple skeletal enchondromas: a variant of Maffucci’s syndrome. Gen Diagn Pathol 1998 ;143(5-6):331–335. Medline Google Scholar
Bone Scintigraphy Findings of A Case with Maffucci’s Syndrome
2010年4月21日 · We present a case of Maffucci’s syndrome using bone scintigraphy to evaluate the extent of the disease. Maffucci’s syndrome is a rare congenital nonhereditary disease with mesodermal dysplasia manifesting as enchondromatosis, secondary malignancy, and mesenchymal dysplasias.
Maffucci syndrome | Radiology Case - Radiopaedia.org
The findings are consistent with Maffucci syndrome. The last radiograph shows metallic surgical screw in the tibia after osteotomy. ... Maffucci syndrome; Bone tumors (overview) 283 playlists include this case Public playlists. bone and joint exam 2 by Andrew Flack;