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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

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

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

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

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

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

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

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

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

World Neurosurg 2019 Jul 12;127:103-108. Epub 2019 Mar 12.

Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China. Electronic address:

Background: Ollier disease (OD) is a rare, nonhereditary bone disease that is characterized by the presence of multiple enchondromatosis (3 or more) with a typical asymmetric distribution which is mainly confined to the appendicular skeleton. OD's most serious complication is the transformation of an enchondroma into chondrosarcoma. The most common sites for chondrosarcoma are in the pelvic and shoulder bones, the superior metaphyseal and diaphyseal regions of the extremities. Read More

Medicine (Baltimore) 2018 Apr;97(17):e0512

Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University.

Rationale: Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11).

Patient Concerns: A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. Read More

Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257

Gynecologic Oncology Center, Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address:

Objective: Ovarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance.

Case Report: The report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. Read More

BMC Musculoskelet Disord 2017 04 13;18(1):155. Epub 2017 Apr 13.

Spine Surgery, The First Affiliated Hospital of Guangzhou Medical University, 151 Yanjiang West Road, Guangzhou, 510000, China.

Background: Enchondroma, a subtype of chondroma, originates from the medullary cavity of the bone and produces an expansile growth pattern. Enchondroma located in the spine is rare and a few cases of large thoracic enchondroma have been reported. The authors document a rare case of large enchondroma in the thoracic spine of a 49-year-old woman, and discuss its clinical, radiological and histopathological characteristics. Read More

Vet Radiol Ultrasound 2018 Sep 24;59(5):E50-E55. Epub 2017 Feb 24.

Hospital Clínic Veterinari, Universitat Autònoma de Barcelona, 08193, Barcelona, Spain.

A 7-year-old crossbreed dog presented for lameness with diffuse soft tissue swelling in the right fore limb. Radiographs identified increased opacity of medullary cavity involving the radius and ulna. Whole-body computed tomography (CT) revealed mineral attenuation in the medullary cavity of multiple bones. Read More

Bull Hosp Jt Dis (2013) 2015 Dec;73(4):282-5

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. Read More

Am J Med Genet A 2015 Nov 14;167A(11):2758-66. Epub 2015 Jul 14.

Lady Hardinge Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.

Genochondromatosis is an extremely rare autosomal dominant disorder, which manifests during childhood and tends to regress in adult life. The bony lesions are symmetrically distributed with characteristic localization at the metaphysis of proximal humerus and distal femur. Two types have been described based on the involvement of clavicle. Read More

Spine J 2015 Jun 13;15(6):e15-9. Epub 2015 Mar 13.

Rutgers Robert Wood Johnson Medical School, 125 Paterson Street, New Brunswick, NJ 08903, USA.

Background Context: Maffucci syndrome is a rare disorder comprising multiple enchondromas associated with multiple hemangiomas. Less than 200 cases have been reported in the literature. Most reported cases comprised lesions of the long bone metaphyses, hands, and feet. Read More

Int J Surg Case Rep 2014 18;5(12):968-71. Epub 2014 Oct 18.

Department of Cardiac, Thoracic and Vascular Surgery, National University Hospital, Singapore.

Introduction: Enchondromas are benign tumours derived from cartilaginous tissue and they rarely undergo malignant transformation unless they occur in multiple sites such as in the case of Ollier disease.

Presentation Of Case: We report a rare case of a 36-year-old Chinese female, without any past medical history, who had a right chest wall tumour which was initially diagnosed to be benign, for which she was loss to follow up. The mass had been stable in size for the past 7 years until recently, when it gradually grew bigger. Read More

Radiologia 2015 Jul-Aug;57(4):344-59. Epub 2014 Jul 4.

Servicio de diagnóstico por la imagen,Hospital de la Santa Creu i Sant Pau , Barcelona, España.

Chondrosarcomas are malignant bone tumors originating in cartilage. Chondrosarcoma is the third most common malignant bone tumor after multiple myeloma and osteosarcoma. About 75% of chondrosarcomas are primary lesions. Read More

Neoplasma 2014 ;61(4):365-78

The Enchondroma is a common, benign, cartilage forming tumour. They usually occur as a single, asymptomatic lesion. Occasionally patients present with multiple enchondromas which is generally defined as enchondromatosis. Read More

J Child Orthop 2013 Dec 21;7(6):455-64. Epub 2013 Sep 21.

Department of Orthopaedic Surgery, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006 Australia ; Centre for Orthopaedic and Trauma Research, University of Adelaide, Adelaide, Australia.

Introduction: Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation of lesions, and pattern of inheritance. Lesions typically occur in hands, feet, femora, tibiae and the pelvis. Read More

J Radiol Case Rep 2013 Jun 1;7(6):22-30. Epub 2013 Jun 1.

Department of Diagnostic Imaging, University of Palermo, Italy.

We report a case of a 56-year old man with chronic pain in both knees for several years. This patient had already undergone surgery on his left knee in 2002 after an x-ray showed multiple lytic and well margined lesions in the distal femur and proximal tibia with ground-glass matrix, involving Hoffa's fat pad and the patellar ligament. Histology was consistent with an enchondroma. Read More

Cancer Sci 2014 Mar;105(3):359-62

Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.

We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene in anaplastic astrocytoma tissue but not in other benign tumors. Read More

In Vivo 2013 Nov-Dec;27(6):821-6

Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.

Fibrous dysplasia can be monostotic or, less commonly, polyostotic. The imaging features of polyostotic fibrous dysplasia may closely mimic those of metastatic bone disease, Paget disease, or enchondromatosis (Ollier disease). We present a unique case of polyostotic fibrous dysplasia in a 57-year-old female with a medical history of enchondromas involving the proximal phalanges of the left hand. Read More

Eklem Hastalik Cerrahisi 2013 ;24(3):149-55

Department of Orthopedics and Traumatology, Medical Faculty of Ankara University, 06100 Sıhhiye, Ankara, Turkey.

Objectives: In this study, we aimed to investigate the incidence of benign and malignant hand tumors, localization and management approaches.

Patients And Methods: Between March 1986 and October 2008, 191 consecutive patients (86 males, 105 females; mean age 35.06 years; range 1 to 96 years) who were diagnosed with tumors or tumor-like lesions of the hand in our clinic were retrospectively analyzed. Read More

Acta Otorrinolaringol Esp 2014 Jul-Aug;65(4):271-2. Epub 2013 May 31.

Servicio Otorrinolaringología, Sanatorio Allende. Universidad Católica de Córdoba, Córdoba, Argentina. Electronic address:

Ger Med Sci 2013 28;11:Doc06. Epub 2013 Mar 28.

Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia.

Anisospondyly (irregularly shaped vertebral bodies) and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones are the characteristic features in patients with dysspondyloenchondromatosis (DSC). Thoraco-lumbar scoliosis and windswept deformity of the lower limbs were the major abnormalities encountered in this patient. To the best of our knowledge this is the first case report delineating the spine pathology via reformatted CT scan and the correction of a windswept deformity by means of temporary hemiepiphysiodesis in a patient with (DSC). Read More

Diagn Interv Imaging 2013 Apr 7;94(4):395-409. Epub 2013 Mar 7.

Département d'imagerie médicale, service d'imagerie ostéoarticulaire, cliniques universitaires Saint-Luc, 10 avenue d'Hippocrate, Brussels, Belgium.

Cartilaginous tumours of the extremities are commonly seen in radiographs. Enchondroma is the most frequently encountered tumour. Since the vast majority of enchondromas are asymptomatic, they are typically discovered as incidental findings or along with a pathologic fracture. Read More

J Clin Neurosci 2012 Mar 16;19(3):477-8. Epub 2012 Jan 16.

Department of Neurosurgery, Royal Brisbane and Women's Hospital, Butterfield Street, Herston, Queensland 4029, Australia.

Ollier disease is a rare disorder characterised by the development of multiple enchondromas in long bones. Here we present a 19-year-old man with Ollier disease who also developed three synchronous brain tumours. Craniotomy, biopsy and debulking was performed for one lesion followed by a period of observation, and 9 months later he underwent a second craniotomy and debulking for symptomatic progression. Read More

J Pathol 2011 Jul 19;224(3):334-43. Epub 2011 May 19.

Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex HA7 4LP, UK.

Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML). Since patients with multiple enchondromas have occasionally been reported to have these conditions, we hypothesized that the same mutations would occur in cartilaginous neoplasms. Approximately 1200 mesenchymal tumours, including 220 cartilaginous tumours, 222 osteosarcomas and another ∼750 bone and soft tissue tumours, were screened for IDH1 R132 mutations, using Sequenom(®) mass spectrometry. Read More