Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification.

Ollier disease, or multiple enchondromatosis, has a distinct hallmark of disease variability and requires individualized patient treatment. This is a case report of an 18-year-old woman with Ollier disease isolated to her left hand that was treated nonoperatively for 8 years and followed with serial radiographs. Prognosis of Ollier disease limited to the bones of the hands is believed to be very good: only 12 cases of transformation to chondrosarcoma have been reported in the literature. However, a recent large retrospective multi-institutional study estimated a 15% lifetime risk of developing a malignancy at these locations.

[Profile of Activation of Tyrosine Kinases and MAP Kinases in Therapy of Maffucci Syndrome]. / Profil aktivace receptorových tyrozinkináz a mitogenem aktivovaných proteinkináz v terapii Maffucciho syndromu.

BACKGROUND: Maffucci syndrome is a rare congenital nonhereditary disease characterized by multiple hemangiomas and enchondromas, which may progress into malignancy. The causal therapy does not exist, and therapy is aimed at complications. The determination of appropriate therapy is complicated, and a multidisciplinary approach is often essential. CASE: Authors are presenting the case of a 20-year -old patient with Maffucci syndrome. During her life, multiple enchondromas and progressing hemangiomas have been revealed and they have caused many complications, such as limited movement, growth failure, pain, fluidothorax and ascites. A profile of phosphorylation of selected tyrosine kinases and MAP kinases from progressing hemangioma was performed and with consideration of the result, it led to change of treatment strategy with encouraging clinical response lasting for six months.

Ollier Disease: Pathogenesis, Diagnosis, and Management.

Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple enchondromatosis with a typical asymmetrical distribution and confined to the appendicular skeleton. The pathogenesis of enchondromatosis is not clearly understood. Recently, heterozygous mutations of PTHR1, IDH1 (most common), and/or IDH2 genes have been suggested by various authors as genetic aberrations. Genomic copy number alterations and mutations controlling many vital pathways are responsible for the pathogenesis of Ollier disease. A comprehensive description of all genetic events in Ollier disease is presented in this article. Clinically, Ollier disease has a wide variety of presentations. This article describes the plethora of clinical features, both common and rare, associated with Ollier disease. Multiple enchondromas are most commonly seen in phalanges and metacarpals. Radiologically, Ollier disease presents with asymmetrical osteolytic lesions with well-defined, sclerotic margins. In this article, various radiological features of Ollier disease, including radiographs, computed tomography, and magnetic resonance imaging, are also discussed. Gross pathology, cytological, and histological features of both Ollier disease and its malignant transformation are outlined. Although treatment is conservative in most cases, different possible treatment options for difficult cases are discussed. In the literature, there is a paucity of data about the disease, including diagnosis, management, prognostication, and rehabilitation, necessitating a comprehensive review to further define all of the possible domains related to this disease.

Management of tumors and tumor-like lesions of the hand: a review of 191 patients.

OBJECTIVES: In this study, we aimed to investigate the incidence of benign and malignant hand tumors, localization and management approaches. PATIENTS AND METHODS: Between March 1986 and October 2008, 191 consecutive patients (86 males, 105 females; mean age 35.06 years; range 1 to 96 years) who were diagnosed with tumors or tumor-like lesions of the hand in our clinic were retrospectively analyzed. Patients with only intraosseous ganglion cysts were included in the study. RESULTS: The most common lesion was enchondroma (n=59, 30.89%). A giant-cell tumor of the tendon sheath was the most common benign soft tissue tumor (n=30, 15.70%). Alveolar rhabdomyosarcoma was the most frequent malignant soft tissue lesion (n=5, 2.61%). The most common non-metastatic malignant lesions of the bone were chondrosarcomas (n=6, 3.14%). Of the patients with chondrosarcoma, two were diagnosed with primary lesions, and four were diagnosed with chondrosarcoma when benign cartilaginous lesions underwent malignant transformation during follow-up. Metastases to the hand were seen in six patients. CONCLUSION: The incidence of benign tumors of the hand is higher than malignant tumors. Since hand tumors may affect several parts of the body, diagnosis and treatment are best provided through a multidisciplinary approach.

[Ollier disease: benign tumours with risk of malignant transformation. A review of 17 cases]. / Enfermedad de Ollier: tumores benignos con riesgo de malignización. Revisión de 17 casos.

AIM: To review Ollier disease, an uncommon disease, in order to understand the clinical symptoms, diagnosis, correct treatment, and risk factors in order to prevent malignant transformation. MATERIALS AND METHODS: Seventeen cases of Ollier disease were treated between 1976 and 2006. The variables studied included: age at diagnosis and onset of malignant transformation, location of the lesion, family association with other tumours, radiological findings, treatment for the different lesions, metastatic lesions and survival. We excluded patients with Chondrosarcoma without previous diagnosis of Ollier disease. All malignant transformations were assessed by histopathology studies and radiological images. RESULTS: We include 16 cases of Ollier's and 1 of Maffucci's syndrome. The median age at diagnosis for patients having malignant transformation was 45 years, whereas the average age at diagnosis for patient without progression to malignancy was 11 years. Pathological fractures, dysmetria and deformities led to the diagnosis in young people. Benign lesions were treated with minor surgery. There were five malignancy transformations in four patients (23.5%), with the distal femur being the most frequent location for transformation to grade I chondrosarcoma. Surgery was the treatment in all of them. We found no family association with other tumours. CONCLUSIONS: Multiple enchondromatosis is a benign disease with a high risk of malignant transformation above 40 years old. Bone scintigraphy is the best tool for detecting multiple lesions and malignant transformation. Radical surgery is the only way to improve survival, and this is the reason why early diagnosis is essential.

A case of Ollier disease with non-small cell lung cancer and review of the literature.

Ollier disease is a rare, non-hereditary mesodermal dysphasia, characterized by multiple enchondromas, which demonstrate asymmetric involvement of the metaphyses of the long bones. Many malignancies, especially chondrosarcomas, may be observed in association with this disease. The clinical and radiologic characteristics of a case involving a 44-year-old male patient with non-small cell lung cancer are presented together with the clinical characteristics of other cases reported in the literature.

Condrosarcoma de base de cráneo y enfermedad de Ollier / Chondrosacoma of skull basis and Ollier´s disease

Los condrosarcomas intracraneales son lesiones infrecuentes que pueden presentarse en forma aislada o el contexto de las condromatosis múltiples, como la enfermedad de Ollier y el sindrome de Maffucci. Reportamos el caso clínico de una paciente joven con diagnóstico de enfermedad de Ollier y condrosarcoma de base de cráneo analizando los diagnósticos diferenciales y su tratamiento quirúrgico. (AU)

[Chondrosarcoma in Ollier's disease. Apropos of 2 cases and review of the literature]. / Les chondrosarcomes sur maladie d'Ollier. A propos de deux cas et revue de la littérature.

Ollier's disease is a rate affliction (not more than approximately 100 cases have been reported over a 30-year period) characterized by bone dysplasia in which evolution to degenerative neoplasia has been described. Diagnosis of chondrosarcoma is delicate in these cases. It is a kind of slowly evolving low grade malignant tumor. Surgery is the primary treatment course, and can lead to remission. Prognosis, depending on the number and dimension of the lesions, their localization and metastasis prevention, is usually good, but relapses are relatively frequent: 25 to 50%. In case of relapse, radiotherapy and chemotherapy were tested but their efficacy is limited. We report here two clinical cases and discuss literature data.

Benign and malignant cartilage tumors of bone and joint: their anatomic and theoretical basis with an emphasis on radiology, pathology and clinical biology. I. The intramedullary cartilage tumors.

We reviewed 845 cases of benign and 356 cases of malignant cartilaginous tumors from a total of 3067 primary bone tumors in our database. Benign cartilaginous lesions are unique because the epiphyseal plate has been implicated in the etiology of osteochondroma, enchondroma (single or multiple), periosteal chondromas and chondroblastoma. In the first part of this paper, we will review important clinical, radiologic and histologic features of intramedullary cartilaginous lesions in an attempt to support theories related to anatomic considerations and pathogenesis.

Ollier disease: an interdisciplinary approach.

Ollier disease is a bone disorder characterized by the development of cartilaginous lesions which lead to a variety of bony deformities. Orthopaedic treatment is specific to the resulting deformity, and nursing care will vary according to the individual treatment plan. Successful intervention requires an interdisciplinary approach to care that addresses both physiologic and psychologic concerns. Nursing plays a vital role in both direct interaction with the patient and family and coordination with other disciplines. Long-range care must also include monitoring patients for possible malignant changes.

Hamartosis y asimetría corporal / Harmartosis and body asymetric

En el presente trabajo se ha ilustrado 5 enfermedades que tienen en común la hipertrofia asimétrica de miembros: Klippel-Treanunay-Weber, Proteus, Ollier, Maffucci y Neurofibromatosis. Estas cinco entidades son poco conocidas. Se requiere mostrar sus características clínico-radiológicas mejorando así el diagnóstico y tratamiento de las mismas. La etiología en todos los casos es desconocida. No se ha encontrado transmisión hereditaria, excepto en la Neurofibromatosis. No van asociadas a retardo mental. Las características clínicas son: en el sindrome Klippel-Trenaunay-Weber: Hemangiomas, hiertrofia ósea y/o de tejidos blandos, varicosidades. En el sindrome proteus: gigantismo de manos y/o pies, hipertrofia ósea y/o de tejidos blando. En la enfermedad de Ollier: Encontromas.En el sindrome Maffucci: Encondromas y hemangiomas. Y en la Neurofibromatosis, manchas café con leche, nerufibromas, hipertrofia ósea y/o de tejidos blandos, escoliosis, angulación de la tibia. El pronóstico depende de las complicaciones, pero generalmente es benigno; en la mayoría de los casos, compatible con la vida normal. Los exámenes radiológicos son muy importantes para el diagnóstico y tratamiento, observándose imágenes de ensanchamiento, alargamiento, angulación, acortamiento óseo y anomalias vasculares entre otras. El tratamiento depende del cuadro de cada paciente siendo el rol más importante el del cirujano ortopédico, despús de haberse llegado a un diagnóstico multidisciplinario