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A roentgenographic study of 50 hips suggests that an increased anteversion-valgus configuration of the upper end of the femur is an intrinsic component and common in multiple hereditary exostosis. In one 8-year-old girl, the increased anteversion-valgus may have accelerated dislocation of a septic arthritic hip.
STUDY DESIGN: The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. OBJECTIVE: To describe a case of spinal curvature caused by an osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with "scoliosis." SUMMARY OF BACKGROUND DATA: Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of osteochondromas. METHODS: The patient's medical and radiographic history is reviewed as well as the medical literature. RESULTS: An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 osteochondroma thought to be causing an atypical "scoliosis." Further examination, review of the radiographs, and computed tomography scan showed a large L4 osteochondroma encroaching on the neural elements. The patient's neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar osteochondroma. CONCLUSIONS: Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an osteochondroma in the spinal canal is not the cause of that curvature.
A case of bilateral forearm localization of multiple hereditary osteochondromata and unilateral Kienböck's disease is reported. Ulnar minus variance is frequent in both diseases. Carpal slip is often found in multiple hereditary osteochondromata. In this case, the extremity having both multiple hereditary osteochondromata and Kienböck's disease had no carpal slip. This might have produced an excess load on the lunate, which might have provoked Kienböck's disease.
Several mutations in the extracellular matrix protein matrilin-3 cause a heterogeneous disease spectrum affecting skeletal tissues. We introduced three disease causing point mutations leading to single amino acid exchanges (R116W, T298M, C299S) in matrilin-3 and expressed the corresponding proteins in primary articular chondrocytes to elucidate pathogenic mechanisms at the cellular level. Expression levels, processing, and the secretion pattern of a mutation linked to hand osteoarthritis (T298M) were similar to the wildtype protein, whereas the two other mutants were poorly expressed and hardly detectable in supernatants of transiently transfected cells. Using immunofluorescence staining, we demonstrated that mutants R116W and C299S are retained and accumulate within the endoplasmatic reticulum (ER). Their further trafficking to the Golgi compartment seems to be disturbed, whereas T298M is secreted normally. In cells transfected with the wildtype and T298M constructs, a matrilin-3 containing filamentous network was formed surrounding the cells, whereas in the case of R116W and C299S such structures were completely absent. These observations are similar to those for mutations in the cartilage oligomeric matrix protein (COMP) leading to multiple epiphyseal dysplasia and pseudoachondroplasia suggesting that retention and accumulation of cartilage proteins in the ER might be a general mechanism involved in the pathogenesis of chondrodysplasias.
AIM: Deformity of the forearm with shortening and bowing is common in children with multiple cartilaginous osteochondromas. The objective of this study was to evaluate the benefit of ulnar lengthening using an external fixateur in these patients. METHOD: 9 patients (10 cases) underwent surgery of the forearm between 1995 and 2001 and were evaluated using a standard protocol. The mean follow-up was 33.6 months, the mean age at operation 8.9 years. All patients were treated with ulnar lengthening, in 6 cases combined with an excision of the osteochondromas. RESULTS: Four out of ten patients did show an improvement in postoperative forearm rotation, two deteriorated and 4 presented unchanged. Wrist motion improved in 7 patients and remained unchanged in 3. The postoperative radial articular angle showed an improvement in 6, the carpal slip in 9 of the patients. The preoperative radial head dislocation in one patient remained unchanged postoperatively. CONCLUSION: The authors advocate this therapeutic concept for the correction of forearm deformity in multiple hereditary osteochondromas to prevent a progression of the deformity and to establish carpal stability. A significant improvement of forearm and wrist function could not be reached.
Observations on the early development of multiple osteochondromata in a 3-year-old girl suggest that aberrant growth of a peripheral segment of the growth plate, with extension primarily toward the metaphysis, but towards the epiphysis, impairs development of adjacent areas of epiphyseal cartilage.
A case of hereditary multiple cartilaginous exostosis is reported and the clinical symptoms are discussed. An exostosis of the distal femur was followed by an aneurysma spurium of the left femoral artery. Osteochondromas of the left ribs caused a hematothorax. Thoracotomy was necessary for treatment.
Multiple exostosis, biparietal foramina, minor craniofacial abnormalities, and mental retardation are characteristic of the syndrome associated with a proximal deletion of 11p (MIM # 601224), which has been shown to be a true contiguous gene deletion syndrome. The presence of multiple exostosis is associated with deletion of the EXT2 gene. Similarly, the presence of biparietal foramina has been shown to be associated with the deletion of ALX4 located proximally to EXT2. Specific genes related to mental retardation and craniofacial abnormalities, however, have yet to be identified. We report on a family with a microdeletion of 11(pll.2p11.2) with multiple exostosis and biparietal foramina without mental retardation or craniofacial abnormalities. Our results suggest that genes related to mental retardation and craniofacial development must be located outside of the D11S1785-D11S1385 region.
2 brothers with possible homozygous multiple cartilaginous exostosis (MCE) are reported. The MCE-PD-(Peripheral Dysostosis) syndrome is discussed. A family (father, daughter and son) with Metachondromatosis is presented, and the tendency to spontaneous remission in this condition is emphasized. A "second thought", when considering the diagnosis of mce, seems worthwhile.
Hereditary multiple exostosis is not an uncommon condition; and must be watched for malignant degeneration. A case is reported which has both typical and atypical characteristics. A young male presented with painless metaphyseal lumps, but in addition had a suspicious ischial mass which, when further evaluated, was found to be malignant.
A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) excessive somnolence. The unique presentation, however, does differ from Kleine-Levin syndrome and suggests a relationship between the predominantly ectodermal, congenital disorders and the sleep-wake pattern dysfunction.
Blocking of motion of an interphalangeal joint in the hand by an osteochondroma has not been reported previously. Osteochondromas, which are uncommon in the hand, are encountered most frequently in patients with hereditary multiple exostosis. They can occur away from the epiphyseal plate region at the distal end of the proximal and middle phalanges. Osteochondromas that occur in these locations characteristically cause angular and rotational deformities. Early recognition and prompt surgical treatment in this child resulted in full motion with minimal angular deformity.
2 cases of Rheumatoid arthritis associated with multiple subcutaneous nodules were presented, which resembled "pseudoxanthomatour rheumatoid nodules" as before reported. In the first case, the asymmetrical joint involvement has been preceded by the formation of subcutaneous nodules since 5 years; In the second case, arthritis appeared long before the nodules were formed. In both cases, circumscript vasculitis and high titer of rheumatoid factor were noticed and cystic activities were found in several nodules.
EXT1 and EXT2 are genes that have been shown to cause hereditary multiple exostosis (HME), a syndrome marked by the formation of bony growths juxtaposed to the growth plate. These genes are members of a growing family of proteins with glycosyltransferase activity required for the synthesis of heparan sulfate chains. This protein activity is predicted to play a role in the expression of proteoglycans on the cell surface and in the extracellular matrix. We and others have previously suggested that a two-hit mutational model applies to the development of an exostosis where a germline mutation coupled with a somatic mutation results in the loss of EXT1 or EXT2 function and subsequent tumor formation. We report the direct sequencing and loss of heterozygosity (LOH) analysis of 12 exostoses from 10 HME families, 4 solitary exostoses, and their corresponding constitutional DNA. Of the 16 exostoses screened, we find only one solitary case in which two somatic mutations, a deletion and an LOH, are present. This provides limited support for the two-hit hypothesis involving the EXT1 and EXT2 genes for the development of an exostosis. Alternative models are developed based on the functional significance of EXT proteins in heparan sulfate biosynthesis.
Malignant degeneration to chondrosarcoma occurred in the left hemipelvis of a patient with multiple hereditary exostosis. Tc-99m HDP bone scintigraphy revealed markedly increased focal uptake in the areas of left superior pubic ramus, obturator foramen, and ischium with displacement of the urinary bladder. Of particular interest was the presence of vascularities seen in the flow and blood pool scintigrams. Following surgical exeresis, the gross appearance and histologic features of the tumor were identified as those of a low grade chondrosarcoma.
Multiple hereditary osteochondromatosis is an uncommon autosomal dominant condition in which patients are predisposed to the development of chondrosarcoma. We report a case of a patient who developed a secondary low-grade chondrosarcoma in this setting. The tumor was associated with an unusual multinodular invasive growth pattern into a pre-existing bursa that was present overlying the osteochondroma.
The authors report on the case of a 28-year-old patient with extensive chondrosarcoma of the left ischium and pubis involving hip joint, skin, and soft tissue of the gluteal region, secondary to hereditary multiple exostosis submitted to an extended internal Enneking type II and III hemipelvectomy. No prosthesis or arthrodesis was used. A few years ago, patients with extensive tumors like this one were treated with interilioabdominal amputation, resulting in a loss of quality of life. Two years after the limb-preserving surgery, this patient was disease free, with good functional results, including bipedal ambulation with support.
A case of multiple cartilage exostosis, originating from the transverse process of the second thoracic vertebra in a 16-year old female patient has been described. Because of the symptoms of compression of the brachial plexus and progressive growth, the tumor was surgically removed. The atypical, very rare localization of the tumor created some technical difficulties in planning of the operation. Computerized tomography was helpful in this case and determined the site of origin of the tumor. After surgical treatment, all symptoms subsided.