Benign growths of cartilage in the metaphyses of several bones.
A benign neoplasm derived from mesodermal cells that form cartilage. It may remain within the substance of a cartilage or bone (true chondroma or enchondroma) or may develop on the surface of a cartilage (ecchondroma or ecchondrosis). (Dorland, 27th ed; Stedman, 25th ed)

Rehabilitation experience in a case of Ollier's disease. (1/24)

This paper describes a case of Ollier's disease, an uncommon, nonhereditary skeletal disorder affecting enchondral ossification. The patient was referred to our Rehabilitation Unit after resection of scapular chondroma. He had previously been submitted to several surgical treatments for multiple enchondromatosis. Rehabilitation goals were increasing range of motion, relieving pain and training activities of daily living (ADL). After one month treatment, the patient reported pain relief and showed good improvement of articular function and better performances on ADL. According to our experience, it seems that rehabilitation could play a complementary role as regards surgical treatment of this complex pathology.  (+info)

A case of Maffucci 's syndrome with pleural effusion: ten-year follow-up. (2/24)

INTRODUCTION: Maffucci 's syndrome (MS) is a congenital non-hereditary mesodermal dysplasia characterised by numerous mesenchymal neoplasias in the form of enchondromas with secondary bone deformities and multiple soft tissue haemangiomas that may have phlebolitis. CLINICAL PICTURE: A 23-year-old male patient presented with non-productive cough, dyspnoea, chest pain and back pain. Chest X-ray showed unilateral pleural effusion and multiple enchondromas of the ribs. On physical examination, there were mobile, multiple, bluish-coloured lesions probably cavernous haemangiomas on bilateral chest walls. In addition, there were multiple nodular lesions on the extremities especially accumulated on the fingers. The patient was diagnosed as Maffucci 's syndrome according to computed tomography (CT) of the thorax, conventional radiography of the skeletal system, magnetic resonance (MR) imaging, Th4-Th11 intercostal and right upper extremity angiography and physical examination findings. TREATMENT: As the patient rejected any diagnostic intervention, he was monitored with CT. OUTCOME: During the last 6 years of follow-up, the lesion that was detected on the rib adjacent to the basal segments of the left lung showed significant progression and was accepted as chondrosarcoma. CONCLUSION: To our knowledge, this is the first case of Maffucci ' s syndrome with pleural effusion. In this case report, the probable mechanism of pleural effusion was discussed.  (+info)

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. (3/24)

Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.  (+info)

The management of leg-length discrepancy in Ollier's disease with a fully implantable lengthening nail. (4/24)

Ollier's disease is characterised by severe deformity of the extremities and retarded growth because of multiple enchondromas. For correction of deformity, the Ilizarov method has been used although it has many complications. A 17-year-old boy with Ollier's disease had a limb-length discrepancy of 17.4 cm, with a valgus deformity of the right knee and recurvatum of the femur of 23 degrees . He had undergone three unsuccessful attempts to correct the deformities by using external fixators. We used a fully implantable, motorised, lengthening and correction nail (Fitbone) to achieve full correction of all the deformities without complications. We decided to carry out the procedure in three stages. First, we lengthened the femur by 3.6 cm and the tibia by 4 cm. We then exchanged the femoral nail for a longer implant and achieved a further 6 cm of length. This reduced the shortening to 3.8 cm. When the boy has finished secondary school we will adjust the remaining discrepancy.  (+info)

Extensive limb lengthening in Ollier's disease: 25-year follow-up. (5/24)

A case of extensive lower limb lengthening (32 cm) in a 14-year-old male patient with Ollier's disease is reported. A varus deformity of the femur and a valgus deformity of the tibia were evident. The femur was successfully lengthened 22 cm by metaphyseal distraction, and the tibia was lengthened 10 cm by two-stage distraction-compression method with a cylindrical bone allograft. Ilizarov's distraction device was used. Radiologically, a good bone regenerate was formed. Host bone has incorporated (like sarcophagi) the allograft of tibia. No evidence of vascular or neural disturbances was found. The lengthening indices were counted for femur 22.5 days per centimeter and for tibia 21 days per centimeter, altogether 15.5 days per centimeter. Bone lengthening was performed through the Ollier's disease foci. Fine needle biopsy investigation showed that most embryonic cartilage cells had been replaced with bone tissue. After five years and a 25-year follow-up the patient was satisfied with the result. The function of the knee joint was limited, but the limb was fully weight-bearing. Signs of knee osteoarthritis were found.  (+info)

Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations. (6/24)

BACKGROUND: Enchondromas are benign lesions that can occur as solitary tumors or multiple tumors (Ollier disease) and may be precursors of central chondrosarcomas. Recurrent chondrosarcomas can be of a higher grade compared with primary tumors, suggesting possible progression. METHODS: Genome-wide array-comparative genomic hybridization (CGH) was used to investigate copy number changes in enchondromas and central chondrosarcomas to elucidate both primary genetic events and the events related to tumor progression. Analyses of variance, Student t tests, and hierarchical clustering were used for the current analyses. Array-CGH data were compared with complementary DNA (cDNA) and quantitative reverse-transcriptase polymerase chain reaction expression array data. RESULTS: Genomic imbalances were rare in enchondromas and in grade I chondrosarcomas, whereas they were frequent in high-grade tumors. No genomic imbalances that were specific for Ollier disease were found. The authors identified 22 chromosome regions that were imbalanced in > or =25% of tumors, and 3 of those regions were located on chromosome 12 (12p13, 12p11.21-p11.23, and 12q13, containing among others the PTPRF-interacting protein-binding protein 1 (PPFIBP1) gene. Loss of chromosome 6 and gain of 12q12 were associated with higher grade. Comparison of array-CGH with cDNA expression showed correlations for the ribosomal protein S6 (RPS6) and cyclin-dependent kinase 4 (CDK4) genes. CONCLUSIONS: In the current study the authors identified genomic regions and new candidate genes (RPS6, CDK4, and PPFIBP1) that were associated with tumor progression and prognosis in patients with high-grade chondrosarcomas.  (+info)

Ollier disease. (7/24)

Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation). The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.  (+info)

Maffucci's syndrome complicated by intracranial chondrosarcoma: two new illustrative cases. (8/24)

Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and phlebectasia. Coexisting primary malignancies have been described sporadically. We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging management of intracranial chondrosarcomas. To the best of our knowledge, only twelve similar cases have been reported in the literature.  (+info)

Enchondromatosis is a rare skeletal disorder characterized by the development of multiple enchondromas, which are benign tumors made up of cartilage that form within the bone. These growths can occur in any bone but are most commonly found in the hands and feet. Enchondromatosis can be inherited or may develop sporadically.

There are two main types of enchondromatosis: Ollier disease and Maffucci syndrome. Ollier disease is characterized by multiple enchondromas, typically affecting one side of the body more than the other. Maffucci syndrome is a more severe form of enchondromatosis that includes both enchondromas and benign soft tissue tumors called hemangiomas.

The symptoms of enchondromatosis can vary widely, depending on the size and location of the enchondromas. Some individuals may experience bone pain, fractures, or deformities, while others may have no noticeable symptoms. In rare cases, enchondromas can become malignant, leading to the development of chondrosarcoma, a type of cancer that arises from cartilage.

Treatment for enchondromatosis typically involves monitoring for changes in the size or shape of the tumors and addressing any symptoms as they arise. Surgery may be necessary in some cases to remove large or symptomatic enchondromas, particularly if there is a risk of malignant transformation. Regular follow-up with an orthopedic specialist is recommended to monitor for potential complications.

A chondroma is a benign, slow-growing tumor that develops in the cartilage. Cartilage is a type of connective tissue found in various parts of the body, including the joints, ribcage, and nose. Chondromas are most commonly found in the hands and feet.

Chondromas are typically small, measuring less than 2 centimeters in diameter, and they usually do not cause any symptoms. However, if a chondroma grows large enough to press on nearby nerves or blood vessels, it may cause pain, numbness, or weakness in the affected area.

Chondromas are usually diagnosed through imaging tests such as X-rays, CT scans, or MRI scans. If a chondroma is suspected based on these tests, a biopsy may be performed to confirm the diagnosis and rule out other types of tumors.

Treatment for chondromas typically involves surgical removal of the tumor. In most cases, this can be done using minimally invasive techniques that allow for quicker recovery times. After surgery, patients will need to follow up with their healthcare provider to ensure that the tumor has been completely removed and to monitor for any signs of recurrence.

Ollier disease can be considered a synonym for enchondromatosis. Maffucci syndrome is enchondromatosis with hemangiomatosis. " ... Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas. ...
Late in the 19th century, Ollier was one of the first to distinguish between enchondromatosis and this condition by ... An alternative theory suggests that since there have been cases of multiple family members with enchondromatosis, the disorder ... Halal, Fahed; Azouz, E. Michel (1991-03-15). "Generalized enchondromatosis in a boy with only platyspondyly in the father". ... Pansuriya, Twinkal C; Kroon, Herman M; Bovée, Judith VMG (2010-06-26). "Enchondromatosis: insights on the different subtypes". ...
At age 10, MR imaging showed solid fusion at L1/2 and L3/4 and radiography showed enchondromatosis lesions. She also had some ... Al Kaissi A, Klaushofer K, Grill F (2007-09-01). "Progressive vertebral fusion in a girl with spinal enchondromatosis". ...
Presentation of multiple enchondromas is consistent with multiple enchondromatosis (Ollier Disease). Treatment of enchondromas ...
When several occur in one long bone or several bones, the syndrome is called enchondromatosis. Where there are no symptoms, ... The conditions that involve multiple lesions include the following:[citation needed] Ollier disease (enchondromatosis) - when ...
Two brothers born of a consanguineous first-cousin Iraqi Jewish union had enchondromatosis which was visible under radiographs ...
... a bone disorder that is also known as multiple enchondromatosis. Furthermore, the cambium layer (inner layer of the periosteum ...
Bone dysplasias, including Paget's disease of bone, fibrous dysplasia, enchondromatosis, and hereditary multiple exostoses, ...
... enchondromatosis, and Majewski syndrome. Frederik Ruysch was born in The Hague as the son of a government functionary and ...
... as well as enchondromatosis and primary failure of tooth eruption. Parathyroid hormone 1 receptor has been shown to interact ...
... enchondromatosis MeSH C05.116.099.708.375 - fibrous dysplasia of bone MeSH C05.116.099.708.375.199 - cherubism MeSH C05.116. ...
Enchondromatosis dwarfism deafness Enchondromatosis dwarfism calfness Encopresis Endocardial fibroelastosis Endocarditis, ... ganglia-calcification Encephalopathy recurrent of childhood Encephalotrigeminal angiomatosis Enchondromatosis (benign) ...
Enchondromatosis - Ender's nail - Endochondral ossification - Endosteum - Enthesis - Epiphyseal plate - Epiphysiodesis - ...
Ollier disease can be considered a synonym for enchondromatosis. Maffucci syndrome is enchondromatosis with hemangiomatosis. " ... Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas. ...
encoded search term (Enchondroma and Enchondromatosis Imaging) and Enchondroma and Enchondromatosis Imaging What to Read Next ... Enchondroma and Enchondromatosis Imaging Updated: Apr 12, 2023 * Author: Felix S Chew, MD, MBA, MEd; Chief Editor: Felix S Chew ... Enchondromatosis can occasionally have the appearance of linear lucencies, in which the chondrocytes appear to line up in a ... Malignant transformation is a major complication of enchondromatosis in approximately 35% of cases. [9, 3] Signs of malignancy ...
Also known as dyschondroplasia, multiple cartilaginous enchondromatosis, enchondromatosis Spranger type I is defined by the ... enchondromatosis Spranger type II is a non-hereditary enchondromatosis and characterized by the presence of multiple ... Enchondromatosis sub-types. Classification diagram for patients with multiple enchondromas based on spinal involvement and ... Pansuriya, T.C., Kroon, H. M., & Bovée, J. V. (2010). Enchondromatosis: insights on the different subtypes. International ...
encoded search term (Enchondroma and Enchondromatosis Imaging) and Enchondroma and Enchondromatosis Imaging What to Read Next ... Enchondroma and Enchondromatosis Imaging. Updated: Dec 28, 2015 * Author: Felix S Chew, MD, MBA, MEd; Chief Editor: Felix S ... Enchondromatosis can occasionally have the appearance of linear lucencies, in which the chondrocytes appear to line up in a ... Ollier disease with digital enchondromatosis: anatomic and functional imaging. Clin Nucl Med. 2014 Aug. 39 (8):e375-8. [QxMD ...
Copyright © 2000-2023 by the Society of Hospital Medicine and related companies. All rights reserved. ISSN 1553- ...
Enchondromatosis, see Ollier disease. *Enchondromatosis with hemangiomata, see Maffucci syndrome. *Enchondromatosis, multiple, ...
... it is characterised by enchondromatosis associated with spindle cell haemangiomas. The disease begins in childhood with the ...
in enchondromatosis, risk of malignant transformation is about 10-25%; - in Maffucci disease (multiple enchondromas and ... The malignant potential of enchondromatosis. - Low risk of recurrence of enchondroma and low grade chondrosarcoma in ...
Spindle cell vulvar hemangiomatosis associated with enchondromatosis: a rare variant of Maffuccis syndrome. Int J Gynecol ... MRI features of low-grade and high-grade chondrosarcoma in enchondromatosis. Skeletal Radiol. 2021 Aug. 50 (8):1637-1646. [QxMD ...
A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and ... Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.. Skeletal Radiol. ... Mutation analyses including Sanger sequencing of genes involving in enchondromatosis and the metabolic pathway of D-2- ...
Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M, et al. The malignant potential of enchondromatosis. J ... Enchondromatosis is a group of rare and nonhereditary disorder in which patients develop multiple enchondromas; Maffucci ... Enchondromatosis: Insights on the different subtypes. Int J Clin Exp Pathol 2010;3:557-69. ...
Olliers disease, also known as enchondromatosis, shows a strong preference for the small bones in the hands and toes, also ... Maffuccis syndrome is a very uncommon form of enchondromatosis linked with many soft tissues like hemangiomas. This tumour has ...
Secondary chondrosarcoma arising from the left proximal femur in a patient with multiple hereditary enchondromatosis. Plain ...
Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and ...
O Multiple enchondromatosis,O Multiple epiphyseal dysplasia,O Multiple exostoses,O Multiple gastric polyps,O Multiple ... O Metaphyseal enchondromatosis,O Metaphyseal irregularity,O Metaphyseal rarefaction,O Metaphyseal sclerosis,O Metaphyseal spurs ...
Enchondromatosis: insights on the different subtypes Enchondromatosis is the presence of multiple enchondromas. Enchondromas ...
enchondromatosis. Enchondromatose {f}. Feel free to link to this translation! Permanent link: https://www.dict.cc/?s= ...
Enchondromatosis, FGF 23, IDH1/IDH2, Maffucci syndrome, Ollier disease, Osteochondroma", ...
Enchondromatosis. *(Multiple Enchondromas/Ollier Disease. *Enchondromatosis is a rare disorder that is not hereditary in which ... Chondrosarcoma arising in enchondromatosis. *Patients with enchondromatosis are predisposed to developing chondrosarcomas and ... Chondrosarcoma arising in enchondromatosis - The prognosis for patients who develop a chondrosarcoma in setting of ... Multiple Enchondromas (Enchondromatosis/Olliers Disease). *Maffucci Syndrome (Multiple Enchondromas and Soft Tissue ...
Rare diseases are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Olliers Disease, also known as enchondromatosis, frequently occurs in the small bones in the hands and toes (phalanges) and ... Maffuccis Syndrome is a very rare form of enchondromatosis that combines multiple enchondromas in bones anywhere in the body ...
know what other name multiple enchondromatosis goes by. *understand the complications that can arise with multiple enchondromas ...
Multiple enchondromatosis Page: Multiple hereditary exostosis Page: Multiple myeloma Page: Myositis ossificans Page: Myxoid ...
Wong, T. T., Chen, H. H., Liang, M. L., Hsieh, K. L. C., Yang, Y. S., Ho, D. M. T., Chang, K. P., Lee, Y. Y., Lin, S. C., Hsu, T. R., Chen, Y. W., Yen, S. H., Chang, F. C., Guo, W. Y., Chen, K. W., Kwang, W. K., Hou, W. Y. & Wang, C. Y., 10月 1 2016, 於: Childs Nervous System. 32, 10, p. 1895-1906 12 p.. 研究成果: 雜誌貢獻 › 文章 › 同行評審 ...
Hakar, M., Chandler, J. P., Bigio, E. H. & Mao, Q., Jan 1 2017, In: Journal of Clinical Neuroscience. 35, p. 68-70 3 p.. Research output: Contribution to journal › Article › peer-review ...
Enchondromatosis1 test. *Enhanced S-cone syndrome1 test. *Epidermolysis bullosa1 test ...
Enchondromatosis dwarfism deafness From NCATS Genetic and Rare Diseases Information Center Deafness conductive ptosis skeletal ...
Forms of enchondromatosis :. *Ollier`s Disease, It occur in hand and toes bones. And the long bones behind phalanges called ... Maffucci`s Syndrome, rare form of enchondromatosis. This is associated with multiple soft tissue hemangiomas. Such tumor can ...
... enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) ... 2010) suggested a new classification of enchondromatosis (multiple enchondromas). [from OMIM]. MedGen UID: 375009. •Concept ID ... 1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), ...
multiple enchondromatosis, see Ollier disease. *multiple endocrine adenomatosis, see multiple endocrine neoplasia ...
  • Ollier disease can be considered a synonym for enchondromatosis. (wikipedia.org)
  • Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas. (wikipedia.org)
  • Patients with enchondromas are usually 15 to 35 years of age, but enchondromatosis typically presents before the age of 10 years. (medscape.com)
  • When multiple enchondromas coexist, the diagnosis of enchondromatosis should be considered. (medscape.com)
  • Maffucci's Syndrome is a very rare form of enchondromatosis that combines multiple enchondromas in bones anywhere in the body with benign soft tissue tumors (known as hemangiomas ), which are associated with blood vessels. (mpma.org)
  • 2010) suggested a new classification of enchondromatosis (multiple enchondromas). (nih.gov)
  • Multiple enchondromatosis, also known as Ollier's disease, is a rare, non-hereditary skeletal disorder characterized by the presence of multiple benign tumors called enchondromas. (wustl.edu)
  • Ollier's disease, also known as enchondromatosis, shows a strong preference for the small bones in the hands and toes, also known as phalanges, and the long bones behind the phalanges called metatarsals. (drfoot.co.uk)
  • Maffucci's syndrome is a very uncommon form of enchondromatosis linked with many soft tissues like hemangiomas. (drfoot.co.uk)
  • 2. Sunny G, Hoisala VR, Cicilet S, Sadashiva S. Multiple enchondromatosis: Olliers disease-a case report. (jbstjournal.com)
  • To beamily pry an anticyclonic, an semiparochial hydroxycholesterol happens those sensationalism buying micardis generic online uk inside Enchondromatosis GenStent. (cambrilvending.com)
  • These tumors rarely transform into chondrosarcomas, but people with many of these tumors (a condition called multiple enchondromatosis ) have an increased risk of chondrosarcoma. (cancer.org)
  • Ollier disease can be considered a synonym for enchondromatosis. (wikipedia.org)
  • Maffucci syndrome is enchondromatosis with hemangiomatosis. (wikipedia.org)
  • Enchondromatosis refers to a group of diseases characterized by multiple enchondromas including metachondromatosis (MC), Ollier disease (OD), and Maffucci syndrome (MS) among others. (nih.gov)
  • The authors describe associated congenital aetiology as the occurrence of this deformity in conjunction with chromosomal conditions such as Down's syndrome or Turner's syndrome, or diseases such as enchondromatosis and dystrophic dwarfism. (mass4d.com)
  • Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas. (wikipedia.org)