Multiple Enchondromatosis Research Articles

ALK‐positive diffuse large B‐cell lymphoma

Anaplastic lymphoma kinase (ALK) positive diffuse large B-cell lymphoma (DLBCL) is a rare subtype of non-Hodgkins lymphoma. Five such cases have been described in children. We present a 9-year-old boy, in whom diagnosis of DLBCL has been established in addition to congenital multiple enchondromatosis. Immunohistopathological evaluation of tumor biopsy established the final diagnosis of ALK + DLBCL. The clathrin gene (CLTC)-ALK fusion underlying aberrant expression of ALK in the present case was demonstrated by interphase fluorescence in situ hybridization (FISH) using break-apart rearrangement probes for ALK and CLTC. The disease in this patient was highly resistant to applied chemotherapy regimens and to radiotherapy. Analysis of the disease course in our patient and review of other cases reported previously show that ALK + DLBCL can be an aggressive malignancy that can be cured with conventional chemotherapy protocols only at stage of localized disease.

Chronic Myeloid Leukemia in an Adolescent with Ollier's Disease after Intensive X-Ray Exposure

We report a 19-year-old man with Ollier's disease with multiple orthopedic procedures performed for leg length discrepancy; who developed chronic myeloid leukemia presenting with intramuscular hematoma. His symptoms resolved with cytoreductive treatment by hydroxyurea. Cytogenetic and molecular investigations showed a complex Philadelphia translocation t(9;22;13) (q34;q11.2;q12), with predominance of e1a2 BCR/ABL splicing and deletion of reciprocal der(9) ABL/BCR locus, all suggesting poor prognosis. The cumulative X-ray exposure from repeated operations from the age of 7 to 12 years was estimated to be around 16 mSv, approximately the dose of 720 chest X rays. Literature review showed two other cases of leukemia occurring in patients with multiple enchondromatosis. Although the development of CML in this young patient might be related partly to genetic defects, the repeated radiation exposure, especially at young age and directly on the marrow tissue in the long bones, might also be an important pathogenetic factor.

Volar Surgical Correction of Madelung's Deformity

Volar Surgical Correction of Madelung's Deformity

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.

Lengthening of pediatric forearm deformities using the Ilizarov technique: functional and cosmetic results.

Eight patients (average age, 10 years) had a unilateral forearm lengthening procedure using the technique developed by Ilizarov. The procedure was performed in 4 patients with radial agenesis, in 2 with multiple hereditary exostosis, in 1 with ulnar agenesis, and in 1 with multiple enchondromatosis. Patients underwent distraction osteogenesis through either a unifocal or bifocal corticotomy. Forearm length increased on average 6.0 cm (range, 3.6-8.1 cm) or 54% (range, 21% to 94%) with a lengthening index of 1.3 months per centimeter (range, 0.6-1.9 months per centimeter). The length of follow-up averaged 4.5 years and involved office examinations with task evaluation and a questionnaire addressing function and appearance. Limb length discrepancy at follow-up measured 3.7 cm (range, 0.0-8.0 cm). Lengthening of the forearm was found to improve upper extremity function; it allowed the patient to reach distant body parts and to perform select activities requiring near-equal arm length. Forearm lengthening also improved the appearance of the arm if adequate soft tissue was preserved. Full restoration of arm length was not a requirement for a successful outcome and patient satisfaction with the results of the procedure was high.

Deletion 1p in a Low-Grade Chondrosarcoma in a Patient with Ollier Disease

Ollier disease is an uncommon, nonhereditary developmental disorder affecting enchondral ossification. Cytogenetic analysis of low-grade chondrosarcoma in a patient with Ollier disease (multiple enchondromatosis) revealed an interstitial deletion, del(1)(p11p31.2), as the only chromosome abnormality. This is the first cytogenetic study of a chondrosarcoma in a patient with Ollier disease. Such patients are at risk of developing chondrosarcoma and, because del(1p) is frequent in chondrosarcoma, it is suggested that this cytogenetic finding is associated with early chondrosarcomatous transformation.

Chondrosarcome des fosses nasales et syndrome de Maffucci-Kast

Maffucci's syndrome is a congenital non-hereditary disease very similar to Ollier's disease and associates multiple cutaneous hemangiomas, dyschondroplasia and often enchondromas. We report a unique case involving synchronous localization of chondrosarcoma in nasal fossae and anterior chest wall, disclosing Maffucci's syndrome. Atypical chondrosarcoma localization must lead to further investigation of potential multiple enchondromatosis.

Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome

We report a girl with multiple enchondromatosis, unequal leg length, short stature, congenital scoliosis, lymphangioma, and cutaneous hemangiomata. The skeletal findings were consistent with the clinical and radiological features of dysspondyloenchondromatosis except that short stature was not apparent in the neonatal period. Dysspondyloenchondromatosis is a rare disorder, one of the several types of multiple enchondromatosis with spinal abnormalities. In previous reports of this condition the association of vascular lesions usually found in Maffucci syndrome has not been described.

Identical Twins with Ollierʼs Disease and Intracranial Gliomas

Sarcomatous transformation of the enchondromas is a well-known complication of Ollier's disease, and nonsarcomatous malignancies have usually been associated with Maffucci's syndrome. Only 13 cases of multiple enchondromatosis associated with intracranial gliomas have been described, 5 of which were in patients with Ollier's disease. We describe three patients, including identical twins, who had both Ollier's disease and primary brain tumors. This is the first report of Ollier's disease in identical twins. These three cases support the theory that Ollier's disease and Maffucci's syndrome may represent a spectrum of the same disease process rather than two distinct diseases.

Spindle cell hemagioendothelioma: A report of two cases

Two cases of spindle cell hemangioendothelioma (SCH) are reported. One of the patients was a 16 year old Japanese female, who had been suffering from Ollier's disease (multiple enchondromatosis) since 3 years of age and had developed multiple SCH in the right leg at the age of 11 years. Spindle cell hemangioendothelioma lesions coincided with the site of enchondromatosis and increased in number thereafter. This is the first report of Ollier's disease complicated with multiple SCH. Another patient, a 33 year old Japanese female, who was a carrier of hepatitis B virus (HBV), developed solitary SCH in the lateral aspect of the right ankle where a lipoma was extirpated 10 years previously. Tumor cells of both cases were composed of four cell types: (i) spindle cells; (ii) epithelioid cells; (iii) vacuolated endothelial cells; and (iv) usual endothelial cells. Endothelia in the cavernous area and vacuolated cells reacted to Ulex europaeus agglutin 1 (UEA-I), factor VIII-related antigen and vimentin. Spindle cells and epithelioid cells reacted only to vimentin.

Multiple enchondromatosis (Ollier's disease) complicated by malignant astrocytoma

Multiple enchondromatosis (Ollier's disease) complicated by malignant astrocytoma

ENT presentation of Ollier's disease

Cartilaginous tumours occurring in the head and neck are usually regarded and seen as solitary lesions. However, we present an unique case where the cartilaginous tumour in the ENT region was the presenting feature of Ollier's disease (multiple enchondromatosis). It is recommended that further investigations be carried out in patients with cartilaginous tumours presenting in the head and neck to exclude the possible presence of this unusual and interesting syndrome.

Clival Chondroma in a Child with Ollier’s Disease

An 8-year-old female with Ollier's disease (multiple enchondromatosis) developed an intracranial chondroma arising from the clivus, which was diagnosed by both computed tomography and magnetic resonance imaging. The clinical presentation, differential diagnosis, and management of this rare pediatric intracranial tumor are discussed.

病型が異なる多発性内軟骨腫について

Three cases of multiple enchondromatosis including an Ollier's disease were reviewed in this report. Clinical featurees of multiple enchondromatosis were variable and subclassifications were thought to be necessary.Case 1: a 59-year-old man with his onset of tumor formation of both hands at 23 years old. Deformity or shortening of long bones were not seen. The pathohistological examination revealed no malignancy.It was subclassified as a neoplastic type in multiple enchondromatosis.Case 2: a 11-year-old girl with her onset at 8 years old. The tumors were localized in the right fingers and both toes. Clinical features showed both neoplasma and developmental anomaly, and is was subclassified as an intermediate type.Case 3: a 8-year-old boy wiht his onset of limping due to limb discrepancy at 5 years old. Roentgenographically the tibia showed shortening deformity and cartilage nests which were charactaristic in Ollier's disease. It was caused by failure of normal enchondral ossification and subclassified as a developmental anomaly.

Multiple Enchondromatosis in the Dog

SummaryData is presented of the post-mortem macroscopic and microscopic examination of two Toy Poodles with multiple enchondromatosis (Oilier syndrome). In both animals opening and maturation disorders of the growth plates were found in several skeletal locations. Due to the dogs’ age difference at necropsy (14 and 4 months), some variation was also present in occurrence and appearance of primary and secondary alterations, which gave rise to some conclusions regarding development and progression of the disease. Chondrodysplasia, a characteristic of several breeds, is considered to be the essential factor in the pathogenesis of multiple enchondromatosis in the described cases.

Multiple Enchondromatosis in the Dog

SummaryThe clinical and radiological findings of three related Miniature Poodles with multiple enchondromatosis (Ollier’s disease) are presented. Persisting, in part ossified growth plate cartilage foci were found bilaterally in the humerus, radius, ulna, femur, tibia and fibula of each dog and in one dog in some metacarpal and metatarsal bones. The ribs and many vertebral bodies were also affected. There was evidently no bone formation in the sternebrae. All three dogs first attracted attention at the ages of four to six months, with spontaneous bilateral femoral neck fractures. The mode of inheritance of the condition is not yet clear, but based on the known pedigree data a dominant effect appears unlikely.

Maffucci's syndrome: amesenchymal dysplasia and multiple tumour syndrome.

A case of Maffucci's syndrome with cutaneous, bony and neurological complications is reported. The patient had lymphangiomatosis at birth and developed multiple cutaneous haemangiomas and osteochondromas during childhood. She also developed multiple neurological defects, including cranial nerve palsies due to an intracranial osteochondroma. The occurence of mesodermal dysplasias and neoplasias in the Maffucci syndrome is emphasized, and it is suggested that there is a close relationship between this disorder and Ollier's disease (multiple enchondromatosis).

Multiple enchondromatosis of the hand. A case report

Vertebral artery injuries during cervical spine surgery are rare, with a reported incidence of 0.3% to 0.5%. The vertebral artery enters the vertebral foramen most commonly at C6 and courses from anterior and lateral to medial and posterior with respect to the vertebral body up to C3. The vertebral artery has a more variable course in the atlantoaxial region. Careful assessment on preoperative imaging will identify common anomalies and help avoid a vertebral artery injury. If a vertebral artery injury occurs, rapid action is required to prevent exsanguination or catastrophic neurologic injury. Every attempt should be made to repair the vertebral artery because the contralateral artery may not provide sufficient blood flow in this spondylotic population. If repair is not possible and contralateral circulation is deemed adequate, endovascular coiling or primary ligation should be performed. Tamponade should be avoided as the definitive treatment because of well-known complications.

The Variable Manifestations of Multiple Enchondromatosis

Abstract Roentgenograms taken over a 20-year period illustrate the authors' findings in 2 cases of multiple enchondromatosis. X-ray findings at time of diagnosis were similar in the 2 patients but varied from those considered characteristic of Ollier's disease. With growth, a tendency toward spontaneous arrest and even regression of the disease was noted. Roentgenograms of 3 other patients with the disease, of varying severity, were available, permitting a review of the variety of changes in this condition. The differentiation of enchondromatosis and metaphyseal dysostosis is discussed at length.

Unusual Case of Multiple Abnormalities of Bone with Malignant Degeneration

A bone disease different from any disease commonly recognized was found in one patient observed by us. The pathological changes were a combination of those found in fibrous dysplasia, multiple enchondromatosis, and hemangiomatosis, with final evolution into osteogenic sarcoma.