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Enchondromatosis (Ollier Disease)

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Benign growths of cartilage in the metaphyses of several bones.

Also Known As:

Ollier Disease; Syndrome, Maffucci; Olliers Disease; Maffucci Syndrome; Ollier's Disease; Disease, Ollier; Disease, Ollier's; Enchondromas, Multiple; Enchondromatoses; Enchondroses, Multiple; Multiple Enchondroma; Multiple Enchondromas; Multiple Enchondroses; Multiple Enchondrosis; Enchondroma, Multiple; Enchondrosis, Multiple

Networked: 71 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 179
- Bone Diseases: 3566
  - Developmental Bone Diseases: 198
    - Osteochondrodysplasias: 551
      - Enchondromatosis: 71
        Dyschondrodysplasia with Hemangiomas: 2

Related Diseases

1.	Neoplasms (Cancer)
2.	Hand Deformities (Hand Deformity)
3.	Enchondromatosis (Ollier Disease)
4.	Chondroma (Enchondroma)
5.	Congenital Abnormalities (Deformity)

Experts

1.	Bovée, Judith V M G: 7 articles (06/2015 - 12/2004)
2.	Hogendoorn, Pancras C W: 4 articles (09/2011 - 12/2004)
3.	Pansuriya, Twinkal C: 3 articles (09/2011 - 01/2010)
4.	Rozeman, Leida B: 3 articles (09/2005 - 12/2004)
5.	Cleton-Jansen, Anne-Marie: 2 articles (06/2015 - 03/2005)
6.	Alman, Benjamin A: 2 articles (03/2015 - 03/2002)
7.	Poon, Raymond: 2 articles (03/2015 - 03/2002)
8.	Flanagan, Adrienne M: 2 articles (03/2013 - 09/2011)
9.	Superti-Furga, Andrea: 2 articles (08/2012 - 04/2011)
10.	Sangiorgi, Luca: 2 articles (04/2011 - 12/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Enchondromatosis:

1.	Complementary DNA (cDNA)IBA 09/01/2005 - "The aims of the present study were to identify putative differences in gene expression between solitary and Ollier disease-related tumours, and to elucidate signalling pathways involved in tumour progression by genome-wide cDNA expression analysis. " 09/01/2005 - "cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade."
2.	Hematoxylin (Haematoxylon)IBA 10/01/2009 - "A total of 19 cases of Ollier's disease and 8 control cases of pure multiple enchondroma were investigated by imaging studies including X-ray, CT or MRI, and hematoxylin and eosin stain. "
3.	Eosine Yellowish-(YS) (Eosin)IBA 10/01/2009 - "A total of 19 cases of Ollier's disease and 8 control cases of pure multiple enchondroma were investigated by imaging studies including X-ray, CT or MRI, and hematoxylin and eosin stain. "
4.	SpondyloenchondrodysplasiaIBA 08/15/2007 - "The condition shows a benign course and is clearly different from metachondromatosis, generalized enchondromatosis, and spondyloenchondrodysplasia. " 06/15/2005 - "Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. " 01/01/1985 - "A case is reported of spondyloenchondrodysplasia associating platyspondylia and generalized enchondromatosis, affecting the spine also but absent in the extremities. " 08/15/2012 - "Some, like Ollier disease, Maffucci disease, metaphyseal chondromatosis with hydroxyglutaric aciduria, and metachondromatosis are produced by a dysregulation of chondrocyte proliferation, while others (such as spondyloenchondrodysplasia or dysspondyloenchondromatosis) are caused by defects in structure or metabolism of cartilage or bone matrix. " 01/01/2010 - "Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are most common, while the other subtypes (metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, dysspondyloenchondromatosis and cheirospondyloenchondromatosis) are extremely rare. "
5.	Parathyroid Hormone-Related ProteinIBA 03/01/2005 - "No difference was found between samples from enchondromatosis patients and solitary cases, suggesting no difference in PTHrP signalling. " 03/01/2002 - "A mutant PTH/PTHrP type I receptor in enchondromatosis." 03/01/2002 - "We identified a mutant PTH/PTHrP type I receptor (PTHR1) in human enchondromatosis that signals abnormally in vitro and causes enchondroma-like lesions in transgenic mice. " 03/01/2005 - "Thus, in both enchondromas and central chondrosarcomas, PTHrP signalling is active and independent of IHH signalling, irrespective of the presence or absence of enchondromatosis." 09/15/2008 - "To further define the role of PTHR1-signaling pathway in Ollier disease and Maffucci syndrome, we analyzed the coding sequences of four genes (PTHR1, IHH, PTHrP and GNAS1) in leucocyte and/or tumor DNA from 61 and 23 patients affected with Ollier disease or Maffucci syndrome, respectively. "
6.	Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA 06/20/2015 - "Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas. " 03/01/2013 - "Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship." 12/01/2015 - "Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. "
7.	DNA (Deoxyribonucleic Acid)IBA 06/01/1983 - "In 2 enchondromatoses and 2 benign chondroblastomas, the DNA content was diploid and showed a unimodal normal distribution. " 04/01/2011 - "We next sequenced PTPN11 in DNA samples from 54 patients with the multiple enchondromatosis disorders Ollier disease or Maffucci syndrome, but found no coding sequence PTPN11 mutations. " 09/15/2008 - "To further define the role of PTHR1-signaling pathway in Ollier disease and Maffucci syndrome, we analyzed the coding sequences of four genes (PTHR1, IHH, PTHrP and GNAS1) in leucocyte and/or tumor DNA from 61 and 23 patients affected with Ollier disease or Maffucci syndrome, respectively. "
8.	Carbon MonoxideIBA 01/01/2008 - "Radiographic documentation showed the co-existence of metaphyseal enchondromatosis and development of spinal bony ankylosis. " 02/01/1987 - "Co-existence of enchondromatosis exostosis and hemangiomata." 09/01/2011 - "Ollier disease and Maffucci syndrome are rare, nonhereditary skeletal disorders characterized by the presence of multiple enchondromas with (Maffucci) or without (Ollier) co-existing multiple hemangiomas of soft tissue. "
9.	Type 1 Parathyroid Hormone Receptor (Parathyroid Hormone Receptor)IBA 12/01/2004 - "Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis. " 11/01/2003 - "Mutations of the PTH/PTHrP receptor have been identified in Jansen metaphyseal chondrodysplasia, Blomstrand's lethal chondrodysplasia, and enchondromatosis. "
10.	Technetium Tc 99m MedronateIBA 07/01/2004 - "Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy." 01/01/2003 - "Ollier's disease: characteristic Tc-99m MDP scan features."

Therapies and Procedures

1.	Curettage 01/01/2014 - "Corticoplasty and simple curettage without bone grafting were performed on 24 fingers (60 bones) with multiple enchondromatosis of the hand. " 02/01/1995 - "Treatment of single lesions (curettage and bone grafting) is usually uneventful, but any therapeutic approach to Ollier's disease or Maffucci's syndrome should be tailored to the individual distribution of lesions in the most severely deformed extremities. " 11/01/2012 - "The purpose of this study was to evaluate the efficacy of partial resection of the cortical bone with curettage of the tumor (corticoplasty) for treating hand deformity in Ollier disease. " 01/01/2006 - "This suggests that simple curettage alone at an early stage of Ollier's disease provide cosmetic improvement. " 01/01/2006 - "We experienced a case of Ollier's disease treated four times with simple curettage from the age of 2 years and alpha-tricalcium phosphate cement grafting at the age of 21 years. "
2.	Osteotomy 09/01/2007 - "In this study, we addressed two questions on the treatment for Ollier's disease: (1) how much callus formation occurs when an osteotomy is performed intralesionally and (2) how is the stability of the wires and half-pins that are inserted intralesionally. " 04/01/2003 - "The complex valgus deformity of the right ankle of a 24-year-old Maffucci syndrome man was corrected by three-dimensional osteotomy followed by limb lengthening. "
3.	Ilizarov Technique 03/01/2008 - "Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique." 03/01/2005 - "The Ilizarov technique should be the treatment of choice in restoring the correct axis and length of a limb in patients with Ollier's disease." 03/01/2005 - "Between 1997 and 2001 three children with Ollier's disease underwent treatment of five upper limb segments using the Ilizarov technique. " 01/01/2001 - "The Ilizarov technique is successful in treating patients with Ollier's disease despite some complications and the difficulty in using the technique." 01/01/2001 - "The authors present the results of treatment of 10 patients with Ollier's disease using the Ilizarov technique. "
4.	External Fixators 01/01/2001 - "Use of the Ilizarov external fixator in the treatment of patients with Ollier's disease." 06/01/2010 - "A substantially reduced duration of external fixation, limited postoperative complications and prevention of later pathologic fractures are the reported advantages of the associated use of a circular external fixator with an ESIN system in the management of Ollier's disease. " 09/01/2007 - "Treatment of lower limb deformities and limb-length discrepancies with the external fixator in Ollier's disease."
5.	Bone Transplantation (Bone Grafting) 01/01/2006 - "To our knowledge, this may be the first case of Ollier's disease treated with artificial bone grafting reported in the English literature." 01/01/2014 - "Corticoplasty and simple curettage without bone grafting were performed on 24 fingers (60 bones) with multiple enchondromatosis of the hand. " 02/01/1995 - "Treatment of single lesions (curettage and bone grafting) is usually uneventful, but any therapeutic approach to Ollier's disease or Maffucci's syndrome should be tailored to the individual distribution of lesions in the most severely deformed extremities. "