964 results match your criteria Maffucci Syndrome


Rare Presentation of Pediatric Multiple Enchondromatosis Limited to Single Ray or Single Nerve Distribution in the Hand: A Multicenter Case Series.

J Pediatr Orthop 2022 May 17. Epub 2022 May 17.

Norton Children's Hospital, Louisville, KY.

Background: Multiple enchondromas in the pediatric hand is a relatively rare occurrence and the literature regarding its incidence and treatment is sparse. Within this rare subset of patients, we identified a unique cohort in which lesions are confined to multiple bones in a single ray or adjacent rays within a single nerve distribution. We review the clinical and pathologic characteristics and describe the indications for and outcomes of treatment in this unique subset of patients as well as offer conjectures about its occurrence. Read More

View Article and Full-Text PDF

A Unique Association: Maffucci Syndrome and Cardiac Pathology

Anatol J Cardiol 2022 04;26(4):331-335

Department of Cardiology, Clinical Emergency Hospital "Sf. Spiridon", Iași, Romania.

View Article and Full-Text PDF

Ollier's Disease - Rare Presentation of the Rare Disease.

J Orthop Case Rep 2021 Nov;11(11):31-33

Department of Orthopaedics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Introduction: Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the appendicular skeleton with multiple site involvement. We present a rare case of appendicular as well as axial skeleton involvement in a case of Ollier's disease. Read More

View Article and Full-Text PDF
November 2021

Juvenile granulosa cell tumor associated with Ollier disease.

Skeletal Radiol 2022 Mar 16. Epub 2022 Mar 16.

Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

Prior case reports have described synchronous ovarian juvenile granulosa cell tumor (JGCT) and enchondromatosis in patients with Ollier disease and Maffucci syndrome. We present a case of a juvenile granulosa cell tumor with an IDH1 somatic mutation identified in the ovarian tissue in a 15-year-old female who presented with abnormal vaginal bleeding, several months of irregular menses, and a large multicystic adnexal mass. Multiple mixed lytic and sclerotic lesions were identified in the bones of the pelvis on imaging studies obtained during the work-up of her abdominal mass. Read More

View Article and Full-Text PDF

Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.

Hereditas 2022 Jan 18;159(1). Epub 2022 Jan 18.

Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.

Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies are the most severe complications. Read More

View Article and Full-Text PDF
January 2022

IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.

Front Endocrinol (Lausanne) 2021 1;12:763349. Epub 2021 Nov 1.

Department of Nephrology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

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. Read More

View Article and Full-Text PDF
February 2022

Maffucci Syndrome with Intrahepatic Cholangiocarcinoma: A Case Report.

Case Rep Oncol 2021 Sep-Dec;14(3):1347-1352. Epub 2021 Sep 20.

Division of Gastroenterological, Department of Surgery, Hepato-Biliary-Pancreatic, Transplantation and Pediatric Surgery, Shinshu University School of Medicine, Matsumoto, Japan.

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. Read More

View Article and Full-Text PDF
September 2021

A case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1.

Oral Oncol 2021 11 6;122:105553. Epub 2021 Oct 6.

Department of Oral and Maxillofacial Surgery, Nagoya University Hospital, Nagoya, Japan; Department of Oral and Maxillofacial Surgery, Nagoya University School of Medicine, Nagoya, Japan.

Maffucci syndrome, first described in 1881, is a rare, non-hereditary skeletal disorder characterized by multiple enchondromas in combination with soft tissue hemangiomas. Recent studies have implicated somatic mutations in IDH1/2 contributing to the pathogenesis of Maffucci syndrome. This study describes the first case of Maffucci syndrome harboring a mutation in IDH1, which was associated with a hemangioma in the oral mucosa. Read More

View Article and Full-Text PDF
November 2021

Somatic variant (p.R132C) in an adult male with Maffucci syndrome.

Cold Spring Harb Mol Case Stud 2021 12 9;7(6). Epub 2021 Dec 9.

Murdoch Children's Research Institute, Melbourne, Parkville, Victoria, Australia 3052.

Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the or genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported; therefore, accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. Read More

View Article and Full-Text PDF
December 2021

Hepatocellular adenoma with a double mutation HNF1A and IDH1 in a patient with Ollier disease.

Liver Int 2021 12 21;41(12):3009-3010. Epub 2021 Oct 21.

Bordeaux University, INSERM, BaRITOn, U1053, Bordeaux, France.

View Article and Full-Text PDF
December 2021

Ollier Disease: A Case Series and Literature Review.

Acta Med Litu 2021 19;28(1):181-188. Epub 2021 Feb 19.

Department of Orthopaedics and Traumatology, Lithuanian University of Health Sciences, Kauno klinikos, Kaunas, Lithuania.

Summary Background: Ollier disease is the most common nonhereditary type of enchondromatosis. Enchondromas are common, usually benign intraosseous cartilaginous tumors that form near the growth plate cartilage predominantly unilaterally in the metaphyses and diaphyses of tubular bones. They usually affect the long bones of the hand, the humerus, and the tibia, followed by flat bones, such as the pelvis. Read More

View Article and Full-Text PDF
February 2021

Update on the imaging features of the enchondromatosis syndromes.

Skeletal Radiol 2022 Apr 24;51(4):747-762. Epub 2021 Jul 24.

Imaging Department, Royal National Orthopaedic Hospital, Stanmore, UK.

Ollier disease and Maffucci syndrome are the commonest enchondromatosis subtypes, arising from non-hereditary mutations in the IDH1 and IDH2 genes, presenting in childhood and being characterised by multiple enchondromas. Maffucci syndrome also includes multiple soft tissue haemangiomas. Aside from developing bony masses, osseous deformity and pathological fracture, ~ 40% of these patients develop secondary central chondrosarcoma, and there is increased risk of non-skeletal malignancies such as gliomas and mesenchymal ovarian tumours. Read More

View Article and Full-Text PDF

Lengthening the Lower Extremities of Children with Ollier's and Maffucci's Enchondromatosis Using Implantable Lengthening Nails.

Children (Basel) 2021 Jun 14;8(6). Epub 2021 Jun 14.

Paley Institute, West Palm Beach, FL 33407, USA.

There are multiple forms of enchondromatosis with Ollier's and Maffucci's being the most prevalent types. Limb length discrepancy is a common problem in patients with Ollier's and Maffucci's enchondromatosis. There are multiple reports about lengthening bones in patients with enchondromatosis using external fixators. Read More

View Article and Full-Text PDF

Diffuse midline glioma in Ollier disease: A case report and a brief review of the literature.

Radiol Case Rep 2021 Aug 20;16(8):2299-2305. Epub 2021 Jun 20.

Department of Radiology, Ege University Faculty of Medicine, Izmir, Turkey.

Ollier disease is a rare condition presenting with enchondromas in an irregular distribution within the medullary cavity of bones. The disease is well known for sarcomatous transformation to chondrosarcomas. It also increases the risk of other malignancies like leukemia, ovarian tumors, and glial tumors. Read More

View Article and Full-Text PDF

Multifocal chondrosarcoma of the hand: Case report and review of the literature.

Clin Case Rep 2021 Jun 9;9(6):e04352. Epub 2021 Jun 9.

Texas Tech University Health Sciences Center Lubbock TX USA.

Few multifocal hand chondrosarcomas have been reported. To our knowledge, this report is the first to describe multifocal hand chondrosarcoma in a patient with no evidence of prior enchondroma, Ollier's disease, or Maffucci syndrome. Read More

View Article and Full-Text PDF

Teaching NeuroImage: Histopathologically Confirmed Intracranial Enchondroma/Low-Grade Chondrosarcoma and -Mutated Diffuse Glioma in Ollier Disease.

Neurology 2021 10 26;97(17):e1747-e1748. Epub 2021 May 26.

From the Department of Medicine, Neurology (T.A.G.), Madigan Army Medical Center, Joint Base Lewis-McCord, WA; and Seattle Cancer Care Alliance (L.P.T.), University of Washington.

View Article and Full-Text PDF
October 2021

Clinical differences between central and peripheral chondrosarcomas.

Bone Joint J 2021 May;103-B(5):984-990

Department of Orthopaedics, Royal Orthopaedic Hospital, Birmingham, UK.

Aims: Chondrosarcoma is the second most common primary sarcoma of bone: conventional chondrosarcoma accounts for 85% of all cases. Conventional chondrosarcoma may be central or peripheral. Most studies group central and peripheral chondrosarcomas together, although there is growing evidence that their clinical behaviour and prognosis differ. Read More

View Article and Full-Text PDF

Liver Mass in a Young Male With Ollier Disease.

Gastroenterology 2021 Nov 1;161(5):e4-e5. Epub 2021 Apr 1.

Department of Medicine; Comprehensive Transplant Center; Samuel Oschin Comprehensive Cancer Institute; Karsh Division of Gastroenterology and Hepatology, Cedars-Sinai Medical Center, Los Angeles, California. Electronic address:

View Article and Full-Text PDF
November 2021

Monomelic Maffucci syndrome.

BMJ Case Rep 2021 Mar 3;14(3). Epub 2021 Mar 3.

Trauma and Orthopaedics, Southport and Ormskirk Hospital NHS Trust, Southport, UK.

Maffucci syndrome is a rare congenital, non-hereditary condition characterised by presence of multiple enchondromas and haemangiomas. Enchondromatous lesions affecting epiphysial growth plates can lead to angular deformities and leg-length discrepancy in the lower limb. We describe a 12-year-old girl with monomelic Maffucci syndrome affecting her left lower limb. Read More

View Article and Full-Text PDF

CT angiography and MRI of hand vascular lesions: technical considerations and spectrum of imaging findings.

Insights Imaging 2021 Feb 12;12(1):16. Epub 2021 Feb 12.

Service D'imagerie Guilloz, CHRU Nancy, 54 000, Nancy, France.

Vascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand exposure to trauma and microtrauma, and the superficial location of the lesions. Vascular lesions in the hand may be secondary to local pathology, a proximal source of emboli, or systemic diseases with vascular compromise. In most cases, ischaemic conditions are investigated with Doppler ultrasonography. Read More

View Article and Full-Text PDF
February 2021

Surgical Management of Multifocal Chondrosarcoma in Ollier Disease.

Ortop Traumatol Rehabil 2020 Oct;22(5):373-383

Klinika Ortopedii, Traumatologii i Onkologii Narządu Ruchu, Pomorski Uniwersytet Medyczny w Szczecinie, Polska / Department of Orthopaedics, Traumatology and Orthopaedic Oncology, Pomeranian Medical University of Szczecin, Poland.

Ollier disease is a rare congenital disease in which multiple enchondromas occur. The tumors can transform to malignant chondrosarcomas of various histologic grades. The patient we described has been treated in our orthopedic department six times, always being referred on account of new lesions. Read More

View Article and Full-Text PDF
October 2020

MRI features of low-grade and high-grade chondrosarcoma in enchondromatosis.

Skeletal Radiol 2021 Aug 23;50(8):1637-1646. Epub 2021 Jan 23.

Imaging Department, Royal National Orthopaedic Hospital, Stanmore, England.

Objective: To identify magnetic resonance imaging (MRI) features which aid differentiation of low-grade chondral tumours (LGCT-enchondroma and grade 1 chondrosarcoma) from high-grade chondral tumours (HGCT) in patients with enchondromatosis.

Materials And Method: Approval from our local Research and Innovation Centre of The Institute of Orthopaedics was gained. Patients with enchondromatosis who had biopsy and/or resection of chondral lesions over a 13-year period were identified. Read More

View Article and Full-Text PDF

Cancer surveillance in children with Ollier Disease and Maffucci Syndrome.

Am J Med Genet A 2021 04 12;185(4):1338-1340. Epub 2021 Jan 12.

Pediatric Hematology-Oncology Unit, Division of Pediatrics, Department "Woman-Mother-Child", Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

View Article and Full-Text PDF

Familial Giant Enchondroma of Thoracic Spine: A Rare Manifestation of a Rare Disease.

Neurol India 2020 Nov-Dec;68(6):1447-1449

Department of Neurosurgery, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India.

We present a rare case of spinal enchondromatosis in a 15-year-old boy. The patient presented with spastic paraparesis. He also had multiple bony swellings over the long bones. Read More

View Article and Full-Text PDF

Enchondromatosis and Growth Plate Development.

Curr Osteoporos Rep 2021 02 11;19(1):40-49. Epub 2020 Dec 11.

Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC, 27710, USA.

Purpose Of Review: Enchondroma is a common cartilage benign tumor that develops from dysregulation of chondrocyte terminal differentiation during growth plate development. Here we provide an overview of recent progress in understanding causative mutations for enchondroma, dysregulated signaling and metabolic pathways in enchondroma, and the progression from enchondroma to malignant chondrosarcoma.

Recent Findings: Several signaling pathways that regulate chondrocyte differentiation are dysregulated in enchondromas. Read More

View Article and Full-Text PDF
February 2021

Basophil activation test for Staphylococcus aureus enterotoxins in severe asthmatic patients.

Clin Exp Allergy 2021 04 12;51(4):536-545. Epub 2020 Nov 12.

Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Background: Several studies have shown an association between severe asthma and serum immunoglobulins E (IgE) against Staphylococcus aureus enterotoxins (SEs). SEs-the prototypes being types A (SEA), B (SEB) and toxic shock syndrome toxin 1 (TSST-1)-can induce both polyclonal and specific IgE responses.

Objective: The aim of the study was to evaluate the ability of SEs to induce basophil activation in severe asthmatic patients using the basophil activation test (BAT). Read More

View Article and Full-Text PDF

Co-existence of lung carcinoma metastasis and enchondroma in the femur of a patient with Ollier disease.

Virchows Arch 2021 Jul 13;479(1):203-207. Epub 2020 Oct 13.

Department of Pathology, The Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

Tumour-to-tumour metastasis is very unusual and has been defined as a tumour metastasis into another histologically different tumour. It is extremely rare in bone. We report a case of lung squamous cell carcinoma metastasized to an enchondroma in the femur of a patient with Ollier disease. Read More

View Article and Full-Text PDF

Gene of the month: .

J Clin Pathol 2020 Oct 29;73(10):611-615. Epub 2020 Jul 29.

Anatomical Pathology, Pathcare Cape Town, Cape Town, South Africa.

() encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis. mutations have been described in a number of neoplasms most notably low-grade diffuse gliomas, conventional central and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Read More

View Article and Full-Text PDF
October 2020

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Rheumatol Int 2020 Nov 20;40(11):1903-1910. Epub 2020 Jul 20.

Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and immune dysregulation. Spasticity, developmental delay and intracranial calcification are main neurologic abnormalities. Read More

View Article and Full-Text PDF
November 2020

Maffucci-Syndrom: Späte Diagnose einer seltenen kongenitalen Erkrankung.

Rofo 2020 Oct 8;192(10):966-967. Epub 2020 Jul 8.

Diagnostic and Interventional Radiology, Universitätsklinikum Würzburg, Würzburg, Germany.

View Article and Full-Text PDF
October 2020