Cases reported "Enchondromatosis"

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1/115. Neuro-ophthalmologic manifestations of Maffucci's syndrome and Ollier's disease.

    patients with Ollier's disease (multiple skeletal enchondromas) and Maffucci's syndrome (multiple enchondromas associated with subcutaneous hemangiomas) may develop skull base chondrosarcomas or low-grade astrocytomas as a delayed consequence of these disorders. We report three patients with Ollier's disease and Maffucci's syndrome who had diplopia as the initial manifestation of intracranial tumors. Since patients with Maffucci's syndrome and Ollier's disease are at risk for the delayed development of brain and systemic neoplasms, neuroophthalmologists must be aware of the need for long-term surveillance in patients affected by these conditions. ( info)

2/115. Diffuse brain stem tumor in an adolescent with multiple enchondromatosis (Ollier's disease).

    Among patients with enchondromatosis, those with Ollier's disease are usually considered to be at a lower risk for extra-osseous malignancy than those with Maffucci's disease. However, several reports suggest that Ollier's disease may also be associated with gliomas. We report here the youngest patient in the literature (16 years) to be detected with a brain tumor and Ollier's disease. This is also the first case with diffuse brain stem involvement. Thus, counselling of patients with Ollier's disease may become more difficult than initially thought. ( info)

3/115. A case of Ollier's disease associated with two intracerebral low-grade gliomas.

    Ollier's disease, or multiple enchondromatosis, is a deforming dysplastic disease of cartilage, characterized by multiple, asymmetrically distributed intra-osseous cartilaginous masses in the metaphyses and diaphyses of bones. When associated with soft tissue hemangiomas it is referred to as Maffucci's syndrome, in which the enchondromatosis has no unilateral distribution. The emergence of malignant neoplasms, including gliomas, is a well-recognized complication in Maffucci's syndrome. We report a 28-year-old patient with a history of Ollier's disease, who developed two low-grade cerebral gliomas as well as an intracranial chondroma. This case history questions the distinction between the two forms of enchondromatosis and supports a continuum between these disease entities. ( info)

4/115. Swelling of the dorsum of the hand and/or foot can be a first sign of Maffucci syndrome.

    The cardinal feature of Maffucci syndrome is the coexistence of enchondromatosis and vascular anomalies. The patients are usually normal at birth, the disease becoming evident at any time up to puberty. association of soft-tissue swelling has been described in this syndrome but has not been listed as a sign or symptom. We report three cases in which the initial sign was diffuse swelling of the dorsum of the hand and/or foot. This was noticed at birth in cases 1 (girl) and 3 (girl) and at the age of 1 month in case 2 (boy), who otherwise appeared normal except for case 3 who had a rectovestibular fistula. The pathology of the swollen soft tissue was adipose tissue associated with various degrees of thickened and fibrotic septum containing dilated lymphatic channels. These dilated channels within the septum were so subtle that they were initially overlooked in cases 1 and 2. awareness that swelling of the dorsum of the hand or foot can be the sole sign and symptom of Maffucci syndrome before the typical indications become evident helps the physician establish an early diagnosis of this condition. ( info)

5/115. Is Ollier's disease an understaging of Maffucci's syndrome?

    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. ( info)

6/115. hemangiosarcoma of the left hand in a patient with the rare combination of Maffucci's and Stewart Treves syndrome.

    We describe a patient with the previously unseen combination of Maffucci's and Stewart Treves syndrome who presented with an angiosarcoma of the hand. Maffucci's syndrome is characterized by the presence of multiple enchondroma and soft tissue hemangioma. The syndrome is a rare nonhereditary condition with a usual onset in childhood. Malignant transformations are a common feature of this syndrome. In 1948, Stewart and Treves first described six cases of lymphangiosarcoma after radical mastectomy. This syndrome is an unusual form of angiosarcoma occuring as a complication of lymphedema. Chronic lymphedema and lymphangiectasia preceding lymphangiosarcoma may not only be induced by radical mastectomy with axillary lymph node dissection and postoperative radiation therapy. Posttraumatic, congenital or spontaneous chronic lymphedema may also be associated with lymphangiosarcoma. A time interval of many years seems to be required before malignant transformation develops. Generally the syndrome has a very poor prognosis. Both syndromes described above are of a rare frequency. We report this case because of prior unknown coincidence of both syndromes. ( info)

7/115. D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.

    D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia, spondyloenchondromatosis. ( info)

8/115. Malignant progression in multiple enchondromatosis (Ollier's disease): an autopsy-based molecular genetic study.

    Multiple enchondromatosis (Ollier's disease) is a nonhereditary disease characterized by multiple central (medullary) cartilaginous bone tumors of unknown pathogenesis. It usually involves the extremities with a unilateral predominance, and sarcomatous transformation may occur. We report an autopsy-based genetic study of a 34-year-old man presenting in early adolescence with multiple enchondromas of the extremities, predominantly left-sided, compatible with Ollier's disease. Twelve years after presentation, malignant transformation to a high grade chondrosarcoma occurred in a tibial enchondroma. The patient died after widespread metastatic disease. loss of heterozygosity (LOH), in the tibial chondrosarcoma and its metastases, was identified exclusively on chromosome bands 13q14 and 9p21, while being absent in the femoral enchondroma analyzed. Similarly, p53 overexpression was identified immunohistochemically in the tibial chondrosarcoma and its metastases, while being absent in the femoral enchondroma; LOH at 17p13 however, was not demonstrable. It is hypothesized that inactivation of putative tumor suppressor genes at 9p21 and 13q14, and overexpression of p53, identified in the chondrosarcoma and its metastases, but absent in enchondroma, may be related to sarcomatous transformation in Ollier's disease. ( info)

9/115. Surgical treatment of a massive chondrosarcoma in the skull base associated with Maffucci's syndrome: a case report.

    BACKGROUND: A successfully treated massive chondrosarcoma in the skull base associated with Maffucci's syndrome is presented. The purpose of this report is to discuss the surgical approach to the tumor and reconstruction of the skull base. CASE DESCRIPTION: A 36-year-old woman who had a history of multiple enchondromas and subcutaneous hemangiomas presented with decreased right visual acuity and left papilledema. Computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated a mass in the skull base. The tumor occupied the nasal and paranasal cavities, and extended to the anterior, middle, and posterior intracranial spaces. The midline skull base structures and the left middle cranial base were destroyed. Using a combined anterior craniofacial and left orbitozygomatic approach, the tumor was totally resected. The large skull base defect was reconstructed with a vascularized outer table parietal bone graft attached to a bipedicled temporoparietal galeal flap. The postoperative course was uneventful except for decreased left visual acuity, and temporary diplopia and facial hypesthesia. In 40 months of follow-up there was no recurrence.CONCLUSIONSA skull base approach should be selected to perform total resection of an extensive skull base tumor. The bipedicled temporoparietal galeal flap and vascularized calvarial bone was useful for simultaneous reconstruction. ( info)

10/115. Symmetrical enchondromatosis without vertebral involvement and with cone-shaped phalangeal epiphyses.

    A new type of enchondromatosis is described with a symmetrical distribution but not involving the spine and characterised by severe ankle deformity, shortening of metacarpals and phalanges, and cone-shaped phalangeal epiphyses. ( info)
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