944 results match your criteria Maffucci Syndrome


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

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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

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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

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February 2021

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

Skeletal Radiol 2021 Jan 23. 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

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January 2021

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.

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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

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December 2020

Enchondromatosis and Growth Plate Development.

Curr Osteoporos Rep 2021 Feb 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

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February 2021

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

Clin Exp Allergy 2021 Apr 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

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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

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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

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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.

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October 2020

A Case of Ollier's Disease with P53 Mutation Positive and IDH1 (R132H) Negative Multicentric Gliomas.

Neurol India 2020 May-Jun;68(3):657-659

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

Ollier disease is a rare nonhereditary disorder characterized by multiple enchondromas (enchondromatosis). To report a rare case of Ollier disease with gliomas and its mutation analysis. We hereby report a young lady who presented with seizures. Read More

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Malignant Transformation of Maffucci Syndrome.

J Clin Rheumatol 2020 Jun 10. Epub 2020 Jun 10.

From the Radiology Department, La Mannouba, Mohamed Kassab National Institute of Orthopaedics.

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[Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome].

Acta Ortop Mex 2019 Sep-Oct;33(5):325-328

Departamento de Piel y Partes Blandas del Instituto Nacional de Cancerología. Secretaría de Salud. Ciudad de México. México.

Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. Read More

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Multiple hereditary exostoses and enchondromatosis.

Best Pract Res Clin Rheumatol 2020 06 4;34(3):101505. Epub 2020 Apr 4.

Department of Radiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 35, Entrance C, location C118/ reference point C109, 8200, Aarhus N, Denmark. Electronic address:

Multiple hereditary exostoses (MHE) and enchondromatosis are rare multifocal benign disorders usually causing skeletal deformities appearing already in childhood. MHE is a dominant autosomal inherited disorder characterized by multiple osteochondromas (exostoses) growing outward from the metaphyses of long bones as well as from flat bones. They may cause reduced joint motion and pain due to tendon, muscle, and nerve compression. Read More

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Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.

Am J Med Genet A 2020 05 7;182(5):1093-1103. Epub 2020 Mar 7.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. Read More

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Granulosa Cell Tumor of the Ovary Accompanying with Ollier's Disease: First Case of Contralateral Presentations.

J Obstet Gynaecol India 2020 Feb 12;70(1):81-85. Epub 2019 Jun 12.

3Tehran University of Medical Sciences, Tehran, Iran.

Objective: Granulosa cell tumor (GCT) is a rare entity of ovarian malignancies. Juvenile GCT is considered a malignant tumor with an indolent course and tendency toward late recurrence. However, the association of this tumor and multiple enchondromas has been reported. Read More

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February 2020

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.

Front Oncol 2019 14;9:1507. Epub 2020 Jan 14.

Center for Genetic Medicine, Children's National Health System, Washington, DC, United States.

Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is unique to the tumor, although rare cases of anaplastic astrocytoma have been described in patients with mosaic IDH1 mutations (Ollier disease or Maffucci syndrome). Read More

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January 2020

Do Glioblastomas with Syndromic Association Have Better Prognosis? A Case of Supratentorial Glioblastoma with Embryonal Tumor Differentiation in a Child with Multiple Enchondromatosis.

J Pediatr Neurosci 2019 Oct-Dec;14(4):228-231. Epub 2019 Dec 3.

Department of Neurosurgery, Shatabdi Hospital Phase 2, King George Medical University, Lucknow, Uttar Pradesh, India.

Glioblastoma (GBM) is an aggressive cancerous neoplasm of the brain that has numerous morphological subtypes. Primitive neuroectodermal differentiation (hereafter, referred to as embryonal tumor [ET] differentiation) in GBM is one of them and is known to occur in adults. Their presentation in pediatric population is rare and can be a source of diagnostic confusion. Read More

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December 2019

D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum.

Cureus 2019 Nov 14;11(11):e6157. Epub 2019 Nov 14.

Dermatology, Oklahoma University Health Sciences Center, Oklahoma City, USA.

In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on his abdomen who later presented with an eruption of angiokeratoma circumscriptum within a similar distribution. His condition can likely be explained by underlying somatic mosaicism; however, a unifying culprit gene mutation has not yet been identified. To date, only 10 reported cases of D2HA with enchondromatosis are available in the literature with three reported skin findings. Read More

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November 2019

Differential Diagnosis of Cartilaginous Lesions of Bone.

Arch Pathol Lab Med 2020 01;144(1):71-82

From the Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston.

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. Read More

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January 2020

[Goldenhar syndrome: A case report].

J Fr Ophtalmol 2020 Jan 10;43(1):90-92. Epub 2019 Dec 10.

Service d'ophtalmologie A, CHU Ibn Sina, Souissi, Rabat, Maroc. Electronic address:

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January 2020

A boy with limb deformities and a blue lobulated mass of the palm.

Pediatr Dermatol 2019 Nov;36(6):946-948

Department of Diagnostic and Interventional Radiology, AIIMS, Jodhpur, Rajasthan, India.

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November 2019

Maffucci Syndrome with Clival Enchondroma in Nasopharynx: A Case Report.

Indian J Otolaryngol Head Neck Surg 2019 Oct 10;71(Suppl 1):652-656. Epub 2018 Aug 10.

2Department of Otolaryngology, Head and Neck Surgery and Communication Sciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Maffucci syndrome is an extremely rare sporadic disease, characterized by multiple enchondromas and associated with multiple hemangiomas and/or lymphangiomas. First case was reported in 1881, and fewer than 200 case have been reported to date. Potential sarcomatous malignant transformation have been noticed in previous cases. Read More

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October 2019

Maffucci's syndrome in association with giant tubular adenoma of the breast: Case report and literature review.

Int J Surg Case Rep 2019 23;63:147-152. Epub 2019 Sep 23.

College of Health Sciences, University of Zimbabwe, Parirenyatwa Hospital, Mazowe Street, P.O. Box A168, Avondale, Harare, Zimbabwe.

Introduction: Maffucci's syndrome is a rare congenital, non-hereditary mesodermal dysplasia characterised by multiple enchondromas and vascular lesions. To our knowledge this is the first report of tubular adenoma of the breast in association with Maffucci's syndrome.

Presentation Of Case: We report a 31-year-old female who presented with a large, ulcerated slow-growing painless breast mass. Read More

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September 2019

Genetic Causes of Rare Pediatric Ovarian Tumors.

Klin Onkol 2019 ;32(Supplementum2):79-91

Background: Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first manifestation of a cancer predisposition syndrome. Correct diagnosis of the syndrome may offer the possibility of surveillance for other members of the patients family. Read More

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January 2020

[Chondrosarcoma of the hand arising from multiple enchondromas: a case report].

Orthopade 2020 Jan;49(1):66-69

Klinik für Hand- und Plastische Chirurgie, Kantonsspital Frauenfeld, Spital Thurgau AG, Pfaffenholzstraße 4, 8500, Frauenfeld, Schweiz.

Malignancy occurs more often in multiple enchondromas than in solitary enchondromas. In the hands the rate is about 14%. We amputated the third ray of the hand in a young man with recurrence of an enchondroma. Read More

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January 2020

Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review.

Skeletal Radiol 2020 Jan 5;49(1):115-124. Epub 2019 Jul 5.

Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd 99, 8200, Aarhus N, Denmark.

Objective: To analyze the results of annual screening using whole-body magnetic resonance imaging (WBMRI) in patients with multiple hereditary exostoses (MHE) and enchondromatosis (EC), and estimate the risk for transformation to chondrosarcoma (CS) in these disorders.

Materials And Methods: A total of 62 patients (57 with MHE and five with EC) screened during a mean follow-up period of 4.6 years (range, 1-10 years) using 253 WBMRIs (median four WBMRIs per patient, range, 1-10) were analyzed retrospectively. Read More

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January 2020

IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.

Virchows Arch 2019 Nov 25;475(5):625-636. Epub 2019 Jun 25.

Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.

Mosaic somatic mutations in the isocitrate dehydrogenase 1/2 (IDH1/2) genes have been identified in most enchondromas by targeted mutation analysis. Next-generation sequencing (NGS), that may detect even low-level mosaic mutation rates, has not previously been applied to enchondromas. Immunohistochemistry using the H09 clone is routinely used as a surrogate for the common R132H IDH1 mutation in gliomas. Read More

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November 2019

Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome.

World Neurosurg 2019 Oct 22;130:e356-e361. Epub 2019 Jun 22.

Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, USA. Electronic address:

Background: Maffucci syndrome (MS) and Ollier disease (OD) are rare diseases characterized by multiple benign enchondromas. The incidence of skull base (SB) enchondromas and the risk of malignant transformation remain unknown. Most SB lesions are asymptomatic, and surgical resection carries significant morbidity. Read More

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October 2019