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Acta Medica Lituanica 2021Ollier disease is the most common nonhereditary type of enchondromatosis. Enchondromas are common, usually benign intraosseous cartilaginous tumors that form near the...
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. The estimated prevalence of Ollier disease is 1 in 100,000 and while it is linked with somatic heterozygous mutations in IDH1 or IDH2 genes, exact etiology is unknown. The risk of malignant transformation towards chondrosarcoma is up to 30-35% and it is clinically suspected when pain and a rapid increase in the size of the lesions is seen.
CASE PRESENTATIONS
We report two clinical cases of patients diagnosed with Ollier disease. In both cases transformation to chondrosarcoma was observed.
CONCLUSIONS
Ollier disease is a rare disorder, defined by the presence of multiple enchondromas and an asymmetric distribution of the cartilage lesions that can be extremely variable in terms of size, location, age, gender. Constant monitoring of patients is important due to the high risk of malignancy. Because the disease is very rare and the manifestations vary widely, each patient's case must be evaluated, and the treatment strategy adopted individually.
PubMed: 34393643
DOI: 10.15388/Amed.2021.28.1.8 -
Skeletal Radiology Apr 2022Ollier disease and Maffucci syndrome are the commonest enchondromatosis subtypes, arising from non-hereditary mutations in the IDH1 and IDH2 genes, presenting in... (Review)
Review
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. 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. Metachondromatosis, a rare enchondromatosis subtype characterised by enchondromas and exostoses, will also be briefly outlined.
Topics: Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Exostoses, Multiple Hereditary; Humans; Syndrome
PubMed: 34302201
DOI: 10.1007/s00256-021-03870-0 -
Children (Basel, Switzerland) Jun 2021There 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...
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. However, there are no case series regarding the use of implantable lengthening technology. The purpose of this paper is to describe our experience with implantable nail lengthening in patients with enchondromatosis. A retrospective chart and radiographic review of patients with enchondromatosis who underwent implantable nail limb lengthening was performed. Seven patients with 14 bony segments were reviewed. A total of 11/14 lengthenings were completed without difficulty. There were no issues in terms of fixation location in patients with Ollier's disease. One patient with Maffucci's syndrome experienced migration of the nail during two lengthenings due to a combination of intralesional fixation and preconsolidation. One patient with Ollier's disease developed a knee extension contracture requiring manipulation under anesthesia. No other complications were recorded. The use of implantable nail lengthening to resolve limb length discrepancies in patients with Ollier's disease appears to be safe and effective.
PubMed: 34198529
DOI: 10.3390/children8060502 -
Radiology Case Reports Aug 2021Ollier disease is a rare condition presenting with enchondromas in an irregular distribution within the medullary cavity of bones. The disease is well known for...
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. Central nervous system malignancies associated with Ollier disease are thought to arise by somatic IDH mosaicism with their atypical features of distribution, multifocality, and age of onset. We present a case with imaging consistent with diffuse midline glioma in a patient with Ollier disease. We conclude with a brief review of the literature on Ollier Disease with a focus on central nervous system malignancies, tumorigenesis and pathophysiology.
PubMed: 34194594
DOI: 10.1016/j.radcr.2021.05.046 -
Clinical Case Reports Jun 2021Few multifocal hand chondrosarcomas have been reported. To our knowledge, this report is the first to describe multifocal hand chondrosarcoma in a patient with no...
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.
PubMed: 34136252
DOI: 10.1002/ccr3.4352 -
Neurology Oct 2021
Topics: Brain Neoplasms; Child, Preschool; Chondroma; Chondrosarcoma; Enchondromatosis; Female; Glioma; Humans; Isocitrate Dehydrogenase; Mutation; Neoplasms, Multiple Primary; Skull Base Neoplasms
PubMed: 34039720
DOI: 10.1212/WNL.0000000000012269 -
The Bone & Joint Journal May 2021Chondrosarcoma is the second most common primary sarcoma of bone: conventional chondrosarcoma accounts for 85% of all cases. Conventional chondrosarcoma may be central...
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. The aims of this study were to analyze any differences in characteristics between central and peripheral chondrosarcomas and to investigate the incidence and role of different syndromes.
METHODS
Data from two international tertiary referral sarcoma centres between January 1995 and December 2018 were retrospectively reviewed. The study population consisted of 714 patients with surgically treated conventional chondrosarcoma of the pelvis and limbs.
RESULTS
In patients with Ollier's disease and Mafucci's syndrome, 12/20 (60%) and 2/5 (60%) of malignancies, respectively, were in the limbs, most frequently in the proximal humerus, proximal tibia, and in the hands and feet. In patients with hereditary multiple exostosis (HME), 20/29 (69.0%) of chondrosarcomas were in the pelvis and scapula, specifically in the ilium in 13/29 (44.8%) and the scapula in 3/29 (10.3%). In central chondrosarcoma, survival of patients with Ollier's disease and non-syndromic patients was the same (p = 0.805). In peripheral chondrosarcoma, survival among HME patients was similar (p = 0.676) in patients with tumours of the pelvis and limbs.
CONCLUSION
Both central and peripheral chondrosarcoma have specific characteristics. HME is frequently seen in patients with a peripheral chondrosarcoma, in whom tumours are commonly located in the ilium and scapula. The incidence of Ollier's disease is uncommon in patients with a central chondrosarcoma. Disease-specific survival is equal in different subtypes after adjustment for histological grade. The local recurrence-free survival is the same for different locations and subtypes after adjustment for surgical margin. Cite this article: 2021;103-B(5):984-990.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Bone Neoplasms; Child; Chondrosarcoma; Enchondromatosis; Exostoses, Multiple Hereditary; Female; Humans; Male; Middle Aged; Osteochondrodysplasias; Retrospective Studies
PubMed: 33934657
DOI: 10.1302/0301-620X.103B5.BJJ-2020-1082.R2 -
Gastroenterology Nov 2021
Topics: Adaptor Proteins, Signal Transducing; Adult; Bile Duct Neoplasms; Biopsy; Cholangiocarcinoma; Enchondromatosis; Gene Fusion; Genetic Predisposition to Disease; Golgi Matrix Proteins; Humans; Immunohistochemistry; Isocitrate Dehydrogenase; Male; Mutation; Protein-Tyrosine Kinases; Proto-Oncogene Proteins; Tomography, X-Ray Computed
PubMed: 33812890
DOI: 10.1053/j.gastro.2021.03.057 -
BMJ Case Reports Mar 2021Maffucci syndrome is a rare congenital, non-hereditary condition characterised by presence of multiple enchondromas and haemangiomas. Enchondromatous lesions affecting...
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. She presented with progressive genu valgus deformity of her left knee. This caused her to limp during her gait and was a cosmetic dissatisfaction. The deformity affected her quality of life. She underwent a supracondylar distal femoral corrective osteotomy with a successful clinical outcome and restoration of her gait and cosmetic deformity.
Topics: Child; Enchondromatosis; Female; Growth Plate; Humans; Leg Length Inequality; Osteotomy; Quality of Life
PubMed: 33658216
DOI: 10.1136/bcr-2020-239619 -
Insights Into Imaging Feb 2021Vascular 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... (Review)
Review
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. However, computed tomography angiography (CTA) or dynamic contrast-enhanced magnetic resonance angiography (MRA) is often necessary for treatment planning. MR imaging is frequently performed with MRA to distinguish between vascular malformations, vascular tumours, and perivascular tumours. Some vascular tumours preferentially affect the hand, such as pyogenic granulomas or spindle cell haemangiomas associated with Maffucci syndrome. Glomus tumours are the most frequent perivascular tumours of the hand. The purpose of this article is to describe the state-of-the-art acquisition protocols and illustrate the different patterns of vascular lesions and perivascular tumours of the hand.
PubMed: 33576888
DOI: 10.1186/s13244-020-00958-4