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Maffucci syndrome

MedGen UID:
7437
Concept ID:
C0024454
Disease or Syndrome
Synonyms: Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; Hemangiomatosis Chondrodystrophica; Kast Syndrome; Multiple Angiomas and Endochondromas; MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE
SNOMED CT: Dyschondroplasia and cavernous hemangioma (46041001); Hemangiomata with dyschondroplasia (46041001); Maffucci's syndrome (46041001); Maffucci syndrome (46041001); Chondroplasia angiomatosis (46041001); Maffucci's anomalad (46041001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0013808
OMIM®: 614569
Orphanet: ORPHA163634

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. 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 (166000) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and 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 OMIM]

Additional description

From MedlinePlus Genetics
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is 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 Maffucci syndrome 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 Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.

Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.

Although the enchondromas associated with Maffucci syndrome 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 Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer.

People with Maffucci syndrome 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.  https://medlineplus.gov/genetics/condition/maffucci-syndrome

Clinical features

From HPO
Chondrosarcoma
MedGen UID:
3054
Concept ID:
C0008479
Neoplastic Process
A slowly growing malignant neoplasm derived from cartilage cells.
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
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).
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMaffucci syndrome
Follow this link to review classifications for Maffucci syndrome in Orphanet.

Professional guidelines

PubMed

Wang MX, Kamel S, Elsayes KM, Guillerman RP, Habiba A, Heng L, Revzin M, Mellnick V, Iacobas I, Chau A
Radiographics 2022 Oct;42(6):1598-1620. doi: 10.1148/rg.210234. PMID: 36190850
Suster D, Hung YP, Nielsen GP
Arch Pathol Lab Med 2020 Jan;144(1):71-82. doi: 10.5858/arpa.2019-0441-RA. PMID: 31877083
Southwell-Keely JP, Sira S, Cohen A
Hand Surg 2007;12(1):51-3. doi: 10.1142/S0218810407003365. PMID: 17613185

Recent clinical studies

Etiology

Sharif B, Lindsay D, Saifuddin A
Skeletal Radiol 2022 Apr;51(4):747-762. Epub 2021 Jul 24 doi: 10.1007/s00256-021-03870-0. PMID: 34302201
Jurik AG
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101505. Epub 2020 Apr 4 doi: 10.1016/j.berh.2020.101505. PMID: 32253147
Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H
BMC Res Notes 2016 Feb 27;9:126. doi: 10.1186/s13104-016-1913-x. PMID: 26920730Free PMC Article
Tsao YP, Tsai CY, Chen WS
J Rheumatol 2015 Dec;42(12):2434-5. doi: 10.3899/jrheum.150216. PMID: 26628708
Lin PP, Moussallem CD, Deavers MT
J Am Acad Orthop Surg 2010 Oct;18(10):608-15. doi: 10.5435/00124635-201010000-00004. PMID: 20889950

Diagnosis

Verma GG, Jain VK, Iyengar KP
BMJ Case Rep 2021 Mar 3;14(3) doi: 10.1136/bcr-2020-239619. PMID: 33658216Free PMC Article
El Abiad JM, Robbins SM, Cohen B, Levin AS, Valle DL, Morris CD, de Macena Sobreira NL
Am J Med Genet A 2020 May;182(5):1093-1103. Epub 2020 Mar 7 doi: 10.1002/ajmg.a.61530. PMID: 32144835Free PMC Article
Kirkorian AY, Grossberg AL, Püttgen KB
Semin Cutan Med Surg 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051. PMID: 27607321
Lin PP, Moussallem CD, Deavers MT
J Am Acad Orthop Surg 2010 Oct;18(10):608-15. doi: 10.5435/00124635-201010000-00004. PMID: 20889950
Silve C, Jüppner H
Orphanet J Rare Dis 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37. PMID: 16995932Free PMC Article

Therapy

Li Z, Zhao B, Zhang Y, Tu C, Zheng Y, He X, Xiao S
Clin Exp Dermatol 2015 Dec;40(8):951-4. Epub 2015 Jan 27 doi: 10.1111/ced.12545. PMID: 25623423
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
Nassiri N, O TM, Rosen RJ, Moritz J, Waner M
Am J Obstet Gynecol 2013 May;208(5):366.e1-6. Epub 2013 Feb 6 doi: 10.1016/j.ajog.2013.02.003. PMID: 23395642

Prognosis

El Abiad JM, Robbins SM, Cohen B, Levin AS, Valle DL, Morris CD, de Macena Sobreira NL
Am J Med Genet A 2020 May;182(5):1093-1103. Epub 2020 Mar 7 doi: 10.1002/ajmg.a.61530. PMID: 32144835Free PMC Article
Fuller PJ, Leung D, Chu S
Clin Genet 2017 Feb;91(2):285-291. doi: 10.1111/cge.12917. PMID: 27813081
DeLair DF, Soslow RA
Surg Pathol Clin 2016 Jun;9(2):269-87. Epub 2016 Apr 11 doi: 10.1016/j.path.2016.01.008. PMID: 27241108
Lin PP, Moussallem CD, Deavers MT
J Am Acad Orthop Surg 2010 Oct;18(10):608-15. doi: 10.5435/00124635-201010000-00004. PMID: 20889950
Silve C, Jüppner H
Orphanet J Rare Dis 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37. PMID: 16995932Free PMC Article

Clinical prediction guides

Suster D, Hung YP, Nielsen GP
Arch Pathol Lab Med 2020 Jan;144(1):71-82. doi: 10.5858/arpa.2019-0441-RA. PMID: 31877083
Oushy S, Peris-Celda M, Van Gompel JJ
World Neurosurg 2019 Oct;130:e356-e361. Epub 2019 Jun 22 doi: 10.1016/j.wneu.2019.06.087. PMID: 31233929
Ngai C, Ding DY, Rapp TB
Bull Hosp Jt Dis (2013) 2015 Dec;73(4):282-5. PMID: 26630472
Chun KA, Stephanie S, Choi JY, Nam JH, Suh JS
J Foot Ankle Surg 2015 Sep-Oct;54(5):836-9. Epub 2015 May 27 doi: 10.1053/j.jfas.2015.01.002. PMID: 26024560
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

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