Enchondromatosis, Multiple, Ollier Type

Alternative Names

  • Osteochondromatosis
  • Dyschondroplasia
  • Maffucci Syndrome
  • Ollier Disease
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

166000

Mode of Inheritance

?Autosomal dominant form

Gene Map Locus

3p22-p21.1

Description

Enchondromatosis constitutes a group of disorders, characterized by multiple benign cartilaginous tumors, located primarily in the metaphyseal regions of the tubular bones. The disease is usually diagnosed in childhood. Ollier disease is the best known form of this condition, in which the enchondromas have a predominantly unilateral distribution. Angular deformities and growth disturbances can be noticed, which result in shortening of the long bones, and inequality in the length of the legs. Maffucci Syndrome is another form of the disease, characterized by the association of the multiple enchondromas with soft tissue hemagioma. Although the enchondromas themselves are benign, patients with enchondromatosis carry a higher risk of developing sarcomas, especially osteosarcomas, and chondrosarcomas. The sarcomatous transformation needs to be assessed via biopsy of the affected tissue.

Radiographic findings typically are long low-density streaks projecting through the diaphyses into the epiphyses of the long bone. The tubular bones of the hand appear globular due to expansion. Differential diagnosis includes Hereditary Multiple Exostoses (HME). The lesions can be treated with cutterage and bone grafting. However, the recurrence rate tends to be high after cutterage. At times, inequality in the length of the legs may require surgical correction.

Enchondromatosis has generally been regarded as a non-hereditary, non-familial disease. Only in very few cases has a familial link been implicated. The PTH gene has been purported to be involved in the formation of enchondromas, although not much is known about the underlying molecular mechanism.

Epidemiology in the Arab World

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Other Reports

Jordan

Mahafza (2004) reported on a 21-year-old female patient, diagnosed with Ollier's Disease since the age of 9-years, who presented with a 5-month history of progressive right limb weakness and diplopia provoked by left lateral gaze. Typical enchondromatous multiple bony lesions in both hands, right proximal humerus, right iliac bone, right scapula, and left anterior sixth rib were noticed in the skeletal analysis. In addition, the patient was also found to have left abducent nerve palsy, both right limbs with reduced power, bilateral brisk reflexes, and Babinski sign on the right side. Hemangiomas, other cutaneous manifestations, and abnormalities in visual acuity, color vision, and sensory parameters were not detected. Brain MRI studies revealed two lesions, both hypointense on TI and hyperintense on T2 and FLAIR weighted images, suggesting low-grade gliomas. These lesions were located one in the right parasagittal frontal lobe and the other infiltrating the brain stem. Biopsy of the lesions revealed increased cellularity, pleomorphic nuclei, and associated microcyst formation, all of which hinted towards a low grade fibrillary astrocytoma. No evidence of vascular proliferation or necrosis could be detected. Mahafza (2004) compared this case to several others reported previously, where patients with Olliers disease developed primary brain tumors, and suggested that a continuum exists between the features of Mafucci Syndrome and Olliers Disease.

Morocco

Faik et al. (2006) reported the case of a 24-year-old woman who developed severe bone distortion due to generalized enchondromas since the age of 2 years. Physical examination showed a marked shortening of both upper and lower limbs and cutaneous hemangioma in the legs. Radiological study showed symmetric well-circumscribed radiolucent cystic lesions in the hands and severe metaphysical irregularity and a shortening of all long bones. The biopsy of the third right metacarpal showed enchondroma tissue. Histological examination of the skin specimen showed a hemangioendothelioma. The diagnosis of Maffucci's syndrome was established. Abdominal ultrasound, mammography, cerebral computed tomography (CT) scan, and cervical CT were normal.

Fikri et al. (2006) report a case of Maffucci syndrome in a 24-year-old patient, diagnosed thanks to the data of the clinical examination, the imagery and the histology. The patient presented with various deformations and shortening of the limbs since the age of three years. Radiology revealed several abnormalities.

Oman

Gowri and Jain (2005) reported a pregnant patient with Ollier's disease, who needed a Cesarean section due to enchondromata obscuring the pelvic capacity. This 20-year-old lady, diagnosed at childhood as a case of enchondromatosis, had history of multiple bony overgrowths in the lower limbs. Abdominal examination at 37 weeks of gestation revealed a well grown fetus corresponding to dates. At 38 weeks, she presented in labor and vaginal examination revealed high presenting part with bulging membranes. As there was a bony prominence obstructing the pelvic canal, and she declined elective Cesarean section, controlled rupture of membranes was done. However, as the cord was felt at the side of the head, emergency section was performed, uneventfully delivering a healthy baby. Ollier-related changes in both hips, pubic bone, left and right iliac bones, and a narrow pelvic canal were seen in the patient's pelvic X-ray, taken six weeks later.

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