Enchondromatosis
Abstract 2005 MHE Conference
Leida R. Rozeman, J.V.M.G. Bovée, A.M. Cleton-Jansen,
P.C.W. Hogendoorn Dept. of Pathology,
Leiden University Medical Center, Leiden, The Netherlands
Enchondromatosis is the term for a collection of syndromes with overlapping clinical features and is characterized by the
presence of multiple enchondromas (1). Enchondromas are benign cartilage
producing tumors located in the medulla of bone. Most often they can be found in the long bones, especially of hands and feet.
In about 25% of enchondromatosis patients malignant transformation of an enchondroma into a conventional central
chondrosarcoma occurs compared to <1% in patients with a solitary enchondroma (1;2). Signs for malignant transformation are
sudden growth, fatigue and pain in the affected area (3).
Pathologic fractures at the side of an enchondroma can occur, not necessarily pointing to malignant transformation.
The malignant transformation of enchondromas into central chondrosarcomas can result in an adverse prognosis for the
patient, in parallel to malignant transformation of osteochondromas into peripheral chondrosarcomas. Both central and
peripheral chondrosarcomas share histological similarities and therefore they are graded in the same way. Following the grading
system of Evans et al (4) – the most widely used grading system for chondrosarcomas-, three grades of malignancy are
discerned, grade I, grade II and grade III. Grading is currently the best prognostic indicator. Where as in grade I
chondrosarcomas seldom metastasize, 10-33% of grade II and ~70% of grade III chondrosarcomas metastasize (4;5).
The two most frequent enchondromatosis syndromes are Ollier disease (6;7) and Maffucci syndrome (8;9). Both have multiple
enchondromas but in Maffucci syndrome this is combined with multiple haemangiomas and/or lymphangiomas (8).These are rare
non-hereditary syndromes, and in a group of patients unilateral predominance has been described. Skeletal deformations
become apparent after birth.
Almost all patients with enchondromatosis have orthopedic complications, of which short stature is the most prominent (10;11).
Additionally, deformities of the tubular bones resulting in leg-length discrepancy are described (10;11).
Besides Ollier disease and Maffucci other, even more rare, syndromes have described, which have been subdivided based on the
involvement of hands and feet, spine and hereditary (12;13). For instance, spondyloenchondromatosis is characterized by
involvement of spinal cord, mild involvement of hands and feet and a distribution in a autosomal dominant fashion (12;14).
Generalized enchondromatosis is described to have severe involvement of the hands and feet, mild involvement of the spinal
cord and a distribution in a autosomal recessive fashion (15). One other interesting subclass is metachondromatosis. This is
characterized by the combined presence of multiple enchondromas and exostoses, which are in contrast to those in Multiple
Osteochondromas (16) pointed toward the nearby joint. In these patients there is no evidence of spinal involvement and the
distribution follows an autosomal dominant pattern (17;18)
Abstract 2005 MHE Conference
Leida R. Rozeman, J.V.M.G. Bovée, A.M. Cleton-Jansen,
P.C.W. Hogendoorn Dept. of Pathology,
Leiden University Medical Center, Leiden, The Netherlands
Enchondromatosis is the term for a collection of syndromes with overlapping clinical features and is characterized by the
presence of multiple enchondromas (1). Enchondromas are benign cartilage
producing tumors located in the medulla of bone. Most often they can be found in the long bones, especially of hands and feet.
In about 25% of enchondromatosis patients malignant transformation of an enchondroma into a conventional central
chondrosarcoma occurs compared to <1% in patients with a solitary enchondroma (1;2). Signs for malignant transformation are
sudden growth, fatigue and pain in the affected area (3).
Pathologic fractures at the side of an enchondroma can occur, not necessarily pointing to malignant transformation.
The malignant transformation of enchondromas into central chondrosarcomas can result in an adverse prognosis for the
patient, in parallel to malignant transformation of osteochondromas into peripheral chondrosarcomas. Both central and
peripheral chondrosarcomas share histological similarities and therefore they are graded in the same way. Following the grading
system of Evans et al (4) – the most widely used grading system for chondrosarcomas-, three grades of malignancy are
discerned, grade I, grade II and grade III. Grading is currently the best prognostic indicator. Where as in grade I
chondrosarcomas seldom metastasize, 10-33% of grade II and ~70% of grade III chondrosarcomas metastasize (4;5).
The two most frequent enchondromatosis syndromes are Ollier disease (6;7) and Maffucci syndrome (8;9). Both have multiple
enchondromas but in Maffucci syndrome this is combined with multiple haemangiomas and/or lymphangiomas (8).These are rare
non-hereditary syndromes, and in a group of patients unilateral predominance has been described. Skeletal deformations
become apparent after birth.
Almost all patients with enchondromatosis have orthopedic complications, of which short stature is the most prominent (10;11).
Additionally, deformities of the tubular bones resulting in leg-length discrepancy are described (10;11).
Besides Ollier disease and Maffucci other, even more rare, syndromes have described, which have been subdivided based on the
involvement of hands and feet, spine and hereditary (12;13). For instance, spondyloenchondromatosis is characterized by
involvement of spinal cord, mild involvement of hands and feet and a distribution in a autosomal dominant fashion (12;14).
Generalized enchondromatosis is described to have severe involvement of the hands and feet, mild involvement of the spinal
cord and a distribution in a autosomal recessive fashion (15). One other interesting subclass is metachondromatosis. This is
characterized by the combined presence of multiple enchondromas and exostoses, which are in contrast to those in Multiple
Osteochondromas (16) pointed toward the nearby joint. In these patients there is no evidence of spinal involvement and the
distribution follows an autosomal dominant pattern (17;18)
Research authored by Dr. Hogendoorn
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List of Publications via PubMed
(NIH National Library of Medicine)
List of Publications via PubMed
(NIH National Library of Medicine)
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| Dr. Hogendoorn's research |
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online service providing access to the very best Web resources for education and research located in the UK
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