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Enchondromatosis

MedGen UID:
41775
Concept ID:
C0014084
Disease or Syndrome; Finding
Synonyms: Dyschondroplasia; ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE; Multiple cartilaginous enchondroses; Multiple enchondromatosis; Ollier disease
Modes of inheritance:
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
SNOMED CT: Multiple enchondromata (268274005); Congenital enchondromatosis (268274005); Ollier disease (268274005); Ollier's disease (268274005); Enchondromatosis (268274005)
 
OMIM®: 166000
HPO: HP:0005701
Orphanet: ORPHA296

Definition

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas). [from GTR]

Additional descriptions

From OMIM
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).  http://www.omim.org/entry/166000
From GHR
Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature and underdeveloped muscles.Although the enchondromas associated with Ollier disease start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Ollier disease also have an increased risk of other cancers, such as ovarian or liver cancer.People with Ollier disease usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.A related disorder called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).  https://ghr.nlm.nih.gov/condition/ollier-disease

Clinical features

Chondrosarcoma
MedGen UID:
3054
Concept ID:
C0008479
Neoplastic Process
A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.
Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.
Chondrosarcoma
MedGen UID:
3054
Concept ID:
C0008479
Neoplastic Process
A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.
Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Abnormality of long bone morphology
MedGen UID:
866811
Concept ID:
C4021165
Anatomical Abnormality
An abnormality of size or shape of the long bones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnchondromatosis
Follow this link to review classifications for Enchondromatosis in Orphanet.

Conditions with this feature

Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Metachondromatosis
MedGen UID:
98377
Concept ID:
C0410530
Disease or Syndrome
Upington disease
MedGen UID:
348145
Concept ID:
C1860596
Disease or Syndrome
Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.

Recent clinical studies

Etiology

Burgetova A, Matejovsky Z, Zikan M, Slama J, Dundr P, Skapa P, Benkova K, Cibula D, Fischerova D
Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257. doi: 10.1016/j.tjog.2017.02.002. PMID: 28420520
Herget GW, Strohm P, Rottenburger C, Kontny U, Krauß T, Bohm J, Sudkamp N, Uhl M
Neoplasma 2014;61(4):365-78. doi: 10.4149/neo_2014_046. PMID: 24645839
Slongo T, Schmittenbecher PP, Ganz R
Eur J Pediatr Surg 2011 Mar;21(2):131-3. Epub 2010 Oct 18 doi: 10.1055/s-0030-1262792. PMID: 20957602
Ranger A, Szymczak A, Hammond RR, Zelcer S
J Neurosurg Pediatr 2009 Oct;4(4):363-7. doi: 10.3171/2009.5.PEDS08422. PMID: 19795968
Pannier S, Legeai-Mallet L
Best Pract Res Clin Rheumatol 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. PMID: 18328980

Diagnosis

Burgetova A, Matejovsky Z, Zikan M, Slama J, Dundr P, Skapa P, Benkova K, Cibula D, Fischerova D
Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257. doi: 10.1016/j.tjog.2017.02.002. PMID: 28420520
McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R
Acta Orthop Belg 2016 Mar;82(1):102-5. PMID: 26984661
Superti-Furga A, Spranger J, Nishimura G
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):154-64. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31331. PMID: 22791316
Lee JH, Lim YJ, Lee S, Joo KB, Choi YY, Park CK, Lee YH
J Korean Med Sci 2012 Jan;27(1):96-100. Epub 2011 Dec 19 doi: 10.3346/jkms.2012.27.1.96. PMID: 22219622Free PMC Article
Pansuriya TC, Kroon HM, Bovée JV
Int J Clin Exp Pathol 2010 Jun 26;3(6):557-69. PMID: 20661403Free PMC Article

Therapy

Hirata M, Sasaki M, Cairns RA, Inoue S, Puviindran V, Li WY, Snow BE, Jones LD, Wei Q, Sato S, Tang YJ, Nadesan P, Rockel J, Whetstone H, Poon R, Weng A, Gross S, Straley K, Gliser C, Xu Y, Wunder J, Mak TW, Alman BA
Proc Natl Acad Sci U S A 2015 Mar 3;112(9):2829-34. Epub 2015 Feb 17 doi: 10.1073/pnas.1424400112. PMID: 25730874Free PMC Article
Steinbichler TB, Kral F, Reinold S, Riechelmann H
World J Surg Oncol 2014 Dec 17;12:387. doi: 10.1186/1477-7819-12-387. PMID: 25519205Free PMC Article
Kim E, Miyake J, Kataoka T, Oka K, Moritomo H, Murase T
J Hand Surg Am 2012 Nov;37(11):2294-9. Epub 2012 Oct 4 doi: 10.1016/j.jhsa.2012.08.006. PMID: 23040642
Lee JH, Lim YJ, Lee S, Joo KB, Choi YY, Park CK, Lee YH
J Korean Med Sci 2012 Jan;27(1):96-100. Epub 2011 Dec 19 doi: 10.3346/jkms.2012.27.1.96. PMID: 22219622Free PMC Article
Loder RT, Sundberg S, Gabriel K, Mehbod A, Meyer C
J Pediatr Orthop 2004 Jan-Feb;24(1):102-8. PMID: 14676544

Prognosis

McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R
Acta Orthop Belg 2016 Mar;82(1):102-5. PMID: 26984661
Herget GW, Strohm P, Rottenburger C, Kontny U, Krauß T, Bohm J, Sudkamp N, Uhl M
Neoplasma 2014;61(4):365-78. doi: 10.4149/neo_2014_046. PMID: 24645839
Slongo T, Schmittenbecher PP, Ganz R
Eur J Pediatr Surg 2011 Mar;21(2):131-3. Epub 2010 Oct 18 doi: 10.1055/s-0030-1262792. PMID: 20957602
Ranger A, Szymczak A, Hammond RR, Zelcer S
J Neurosurg Pediatr 2009 Oct;4(4):363-7. doi: 10.3171/2009.5.PEDS08422. PMID: 19795968
Goto T, Motoi T, Komiya K, Motoi N, Okuma T, Okazaki H, Takatori Y, Tange T, Nakamura K
Arch Orthop Trauma Surg 2003 Feb;123(1):42-7. Epub 2002 Nov 16 doi: 10.1007/s00402-002-0452-1. PMID: 12582796

Clinical prediction guides

Ngai C, Ding DY, Rapp TB
Bull Hosp Jt Dis (2013) 2015 Dec;73(4):282-5. PMID: 26630472
Avcu S, Cetin F, Unal O
Fetal Pediatr Pathol 2011;30(2):111-5. doi: 10.3109/15513815.2010.524689. PMID: 21391751
Pannier S, Legeai-Mallet L
Best Pract Res Clin Rheumatol 2008 Mar;22(1):45-54. doi: 10.1016/j.berh.2007.12.004. PMID: 18328980
Loder RT, Sundberg S, Gabriel K, Mehbod A, Meyer C
J Pediatr Orthop 2004 Jan-Feb;24(1):102-8. PMID: 14676544
Kozlowski KS, Masel J
Am J Med Genet 2002 Jan 22;107(3):227-32. PMID: 11807904

Recent systematic reviews

Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J
Orphanet J Rare Dis 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. PMID: 22913777Free PMC Article

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