Rehabilitation experience in a case of Ollier's disease. (1/24)

This paper describes a case of Ollier's disease, an uncommon, nonhereditary skeletal disorder affecting enchondral ossification. The patient was referred to our Rehabilitation Unit after resection of scapular chondroma. He had previously been submitted to several surgical treatments for multiple enchondromatosis. Rehabilitation goals were increasing range of motion, relieving pain and training activities of daily living (ADL). After one month treatment, the patient reported pain relief and showed good improvement of articular function and better performances on ADL. According to our experience, it seems that rehabilitation could play a complementary role as regards surgical treatment of this complex pathology.  (+info)

A case of Maffucci 's syndrome with pleural effusion: ten-year follow-up. (2/24)

INTRODUCTION: Maffucci 's syndrome (MS) is a congenital non-hereditary mesodermal dysplasia characterised by numerous mesenchymal neoplasias in the form of enchondromas with secondary bone deformities and multiple soft tissue haemangiomas that may have phlebolitis. CLINICAL PICTURE: A 23-year-old male patient presented with non-productive cough, dyspnoea, chest pain and back pain. Chest X-ray showed unilateral pleural effusion and multiple enchondromas of the ribs. On physical examination, there were mobile, multiple, bluish-coloured lesions probably cavernous haemangiomas on bilateral chest walls. In addition, there were multiple nodular lesions on the extremities especially accumulated on the fingers. The patient was diagnosed as Maffucci 's syndrome according to computed tomography (CT) of the thorax, conventional radiography of the skeletal system, magnetic resonance (MR) imaging, Th4-Th11 intercostal and right upper extremity angiography and physical examination findings. TREATMENT: As the patient rejected any diagnostic intervention, he was monitored with CT. OUTCOME: During the last 6 years of follow-up, the lesion that was detected on the rib adjacent to the basal segments of the left lung showed significant progression and was accepted as chondrosarcoma. CONCLUSION: To our knowledge, this is the first case of Maffucci ' s syndrome with pleural effusion. In this case report, the probable mechanism of pleural effusion was discussed.  (+info)

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. (3/24)

Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.  (+info)

The management of leg-length discrepancy in Ollier's disease with a fully implantable lengthening nail. (4/24)

Ollier's disease is characterised by severe deformity of the extremities and retarded growth because of multiple enchondromas. For correction of deformity, the Ilizarov method has been used although it has many complications. A 17-year-old boy with Ollier's disease had a limb-length discrepancy of 17.4 cm, with a valgus deformity of the right knee and recurvatum of the femur of 23 degrees . He had undergone three unsuccessful attempts to correct the deformities by using external fixators. We used a fully implantable, motorised, lengthening and correction nail (Fitbone) to achieve full correction of all the deformities without complications. We decided to carry out the procedure in three stages. First, we lengthened the femur by 3.6 cm and the tibia by 4 cm. We then exchanged the femoral nail for a longer implant and achieved a further 6 cm of length. This reduced the shortening to 3.8 cm. When the boy has finished secondary school we will adjust the remaining discrepancy.  (+info)

Extensive limb lengthening in Ollier's disease: 25-year follow-up. (5/24)

A case of extensive lower limb lengthening (32 cm) in a 14-year-old male patient with Ollier's disease is reported. A varus deformity of the femur and a valgus deformity of the tibia were evident. The femur was successfully lengthened 22 cm by metaphyseal distraction, and the tibia was lengthened 10 cm by two-stage distraction-compression method with a cylindrical bone allograft. Ilizarov's distraction device was used. Radiologically, a good bone regenerate was formed. Host bone has incorporated (like sarcophagi) the allograft of tibia. No evidence of vascular or neural disturbances was found. The lengthening indices were counted for femur 22.5 days per centimeter and for tibia 21 days per centimeter, altogether 15.5 days per centimeter. Bone lengthening was performed through the Ollier's disease foci. Fine needle biopsy investigation showed that most embryonic cartilage cells had been replaced with bone tissue. After five years and a 25-year follow-up the patient was satisfied with the result. The function of the knee joint was limited, but the limb was fully weight-bearing. Signs of knee osteoarthritis were found.  (+info)

Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations. (6/24)

BACKGROUND: Enchondromas are benign lesions that can occur as solitary tumors or multiple tumors (Ollier disease) and may be precursors of central chondrosarcomas. Recurrent chondrosarcomas can be of a higher grade compared with primary tumors, suggesting possible progression. METHODS: Genome-wide array-comparative genomic hybridization (CGH) was used to investigate copy number changes in enchondromas and central chondrosarcomas to elucidate both primary genetic events and the events related to tumor progression. Analyses of variance, Student t tests, and hierarchical clustering were used for the current analyses. Array-CGH data were compared with complementary DNA (cDNA) and quantitative reverse-transcriptase polymerase chain reaction expression array data. RESULTS: Genomic imbalances were rare in enchondromas and in grade I chondrosarcomas, whereas they were frequent in high-grade tumors. No genomic imbalances that were specific for Ollier disease were found. The authors identified 22 chromosome regions that were imbalanced in > or =25% of tumors, and 3 of those regions were located on chromosome 12 (12p13, 12p11.21-p11.23, and 12q13, containing among others the PTPRF-interacting protein-binding protein 1 (PPFIBP1) gene. Loss of chromosome 6 and gain of 12q12 were associated with higher grade. Comparison of array-CGH with cDNA expression showed correlations for the ribosomal protein S6 (RPS6) and cyclin-dependent kinase 4 (CDK4) genes. CONCLUSIONS: In the current study the authors identified genomic regions and new candidate genes (RPS6, CDK4, and PPFIBP1) that were associated with tumor progression and prognosis in patients with high-grade chondrosarcomas.  (+info)

Ollier disease. (7/24)

Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation). The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.  (+info)

Maffucci's syndrome complicated by intracranial chondrosarcoma: two new illustrative cases. (8/24)

Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and phlebectasia. Coexisting primary malignancies have been described sporadically. We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging management of intracranial chondrosarcomas. To the best of our knowledge, only twelve similar cases have been reported in the literature.  (+info)

• 1
• 2
• 3