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)
For more information about Ollier's diease / Enchondromatosis, please contact the following organization.
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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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By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and the Intute: health & life
sciences a free online service providing access to the very best Web resources for education and research
located in the UK
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