Is Ollier's disease an understaging of Maffucci's syndrome?

Abstract

Ollier's disease and Maffucci's syndrome are similar multiple enchondromatous conditions. Other co-existing pathologies, particularly other primary malignancies, have been described sporadically in both conditions but more so in Maffucci's syndrome. Maffucci's syndrome is distinguished from Ollier's disease by the presence of haemangiomas in the former. In this report, a patient believed to have Ollier's disease for 44 years was subsequently found to have large splenic haemangiomas on magnetic resonance imaging (MRI). In the light of this, we recommend that any patient diagnosed with Ollier's disease to have total body MRI to search for haemangiomas that will alter the diagnosis to Maffucci's syndrome and hence the prognosis. MRI also screens for the presence of other associated malignancies.

Maffucci' s syndrome complicated by intracranial chondrosarcoma: two new illustrative cases

“…It is well known that Maffucci , s syndrome is associated with an increased risk of malignancy 3 . In Maffucci , s original paper he noticed that these patients developed malignant neoplasms particularly in association with their enchondromatosis 18 .…”

“…Mellon et al 14 In several case reports, we found that at time of the diagnosis of chondrosarcoma, the patient was first considered to present Ollier's disease, but the concomitant diagnosis of a hemangioma indicated a correct diagnosis of Maffucci's syndrome [3][4][5][6]14,[26][27][28] .…”

“…In 1900, Ollier 2 described a similar congenital enchondromatosis without hemangiomas. In reviewing the literature on Maffucci's syndrome, the authors highlight the difficulty involved in making a definitive diagnosis in rare conditions with similar pathology 3 .To the best of our knowledge, these two conditions as reported in the literature were thought to be distinct entities, but some authors suggest that both syndromes represent a spectrum of the same disease process rather than two distinct diseases 4,5 . Actually, it has been suggested that all patients diagnosed to have Ollier's disease should be screened with total body magnetic resonance imaging (MRI) to exclude the presence of hemangiomas and other associated occult malignancies 3 .…”

“…In reviewing the literature on Maffucci's syndrome, the authors highlight the difficulty involved in making a definitive diagnosis in rare conditions with similar pathology 3 .To the best of our knowledge, these two conditions as reported in the literature were thought to be distinct entities, but some authors suggest that both syndromes represent a spectrum of the same disease process rather than two distinct diseases 4,5 . Actually, it has been suggested that all patients diagnosed to have Ollier's disease should be screened with total body magnetic resonance imaging (MRI) to exclude the presence of hemangiomas and other associated occult malignancies 3 . Although the prevalence of malignant changes in skeletal lesions in Maffucci's syndrome and Ollier's disease is quite similar, it is important to differentiate between these two conditions because of the greater risk of developing nonmusculoskeletal malignancies in the former 6,7 .…”

“…Some authors believe it is a result of chromosomal abnormalities 8,9 . Others believe it is a congenital mesodermal dysplasia 3,10 . In a review of the literature, we were able to find 209 reports of Maffucci's syndrome 4,5,[11][12][13] .…”