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Kienböck's disease and multiple hereditary osteochondromata: a case report.

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.

Adult↗

[Correction of forearm deformities in children with multiple cartilaginous osteochondromas].

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.

Bone Lengthening↗

Ulnar variance in children--standard measurements for evaluation of ulnar shortening in juvenile rheumatoid arthritis, hereditary multiple exostosis and other bone or joint disorders in childhood.

Measurements for radioulnar variance in adults cannot be used in children because the epiphyses are not fully ossified. We describe a method of determining ulnar variance in children by using the distance from the distal metaphysis of the radius to the distal metaphysis of the ulna. Standards for this measurement are presented for ages 1.5 to 15.5 years in boys and girls. These measurements change little with age and may be helpful in establishing shortening of the ulna which may been seen in juvenile rheumatoid arthritis, hereditary multiple exostosis, or other bone and joint diseases with childhood onset.

Adolescent↗

Hereditary multiple exostosis. A comparative human-equine-epidemiologic study.

Hereditary multiple exostosis (HME), a bone tumor first described by Virchow, has been studied over a period of 15 years on a comparative basis. The horse, an excellent biomedical model for this physically deforming multiple bone tumor in man, has been utilized in this study. The etiology, hereditary pattern, potential for malignancy and other aspects of this strange affliction need additional clarification. This in-depth study of 261 individuals from 144 families was compared with that of 55 horses bearing the HME trait, selectively bred and studied over the same period. Important information has been collected and evaluated about this condition that is suspect of being frequently missed diagnostically, with a higher incidence in humans that recognized. Continuing development studies of offspring of the original study participants; sarcomatous transformation monitoring; and recently developed genetic techniques should add to our understanding of this puzzling hereditary condition.

Abnormalities, Multiple↗

Spinal osteochondroma presenting as atypical spinal curvature: a case report.

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.

Child↗

Osteochondromas of the distal aspect of the tibia or fibula. Natural history and treatment.

BACKGROUND: There is little information on the natural history or treatment of osteochondromas arising from the distal aspect of either the tibia or the fibula. It is believed that there is a risk of deformation of the ankle if these exostoses are left untreated or if the physis or neurovascular structures are injured during operative intervention. METHODS: We reviewed the records of twenty-three patients who had been treated for osteochondroma of the distal aspect of the tibia or fibula between 1980 and 1996. Four of the patients had hereditary multiple cartilaginous exostoses. There were seventeen male and six female patients, and the average age at the time of presentation was sixteen years (range, eight to forty-eight years). RESULTS: Preoperative radiographs showed evidence of plastic deformation of the fibula in eleven patients who had a large osteochondroma. Four patients elected not to have an operation. The tumor was excised in nineteen patients. Postoperatively, all nineteen patients had a Musculoskeletal Tumor Society score of 100 percent for function of the lower extremity with pain-free symmetrical and unrestricted motion of the ankle at the latest follow-up examination. Partial remodeling of the tibia and fibula gradually diminished the asymmetry of the ankles in all nineteen operatively managed patients; however, the remodeling was most complete in the younger patients. Pronation deformities of the ankle did not change after excision of the tumor. Complications of operative treatment included four recurrences (only three of which were symptomatic), one sural neuroma, one superficial wound infection, and one instance of growth arrest of the distal aspects of the tibia and fibula. CONCLUSIONS: Osteochondromas of the distal and lateral aspects of the tibia were more often symptomatic than those of the distal aspect of the fibula; they most commonly occurred in the second decade of life with ankle pain, a palpable mass, and unrestricted ankle motion. Untreated or partially excised lesions in skeletally immature patients may become larger and cause plastic deformation of the tibia and fibula and a pronation deformity of the ankle. Ideally, operative intervention should be delayed until skeletal maturity, but, in symptomatic patients, partial excision preserving the physis may be necessary for the relief of symptoms and the prevention of progressive ankle deformity. However, partial excision is associated with a high rate of recurrence, so a close follow-up is required. Skeletally mature patients who are symptomatic may require excision of the tumor.

Adolescent↗

Visualization by dynamic and static osseous scintigraphy of pelvic chondrosarcoma in multiple hereditary exostosis.

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.

Adult↗

Malignant degeneration of an osteochondroma with unusual intra-bursal invasion.

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.

Adult↗

Critical roles for collagenase-3 (Mmp13) in development of growth plate cartilage and in endochondral ossification.

Collagenase-3 (MMP13), a member of the matrix metalloproteinase (MMP) family of neutral endopeptidases, is expressed in the skeleton during embryonic development and is highly overexpressed in human carcinomas and in chondrocytes and synovial cells in rheumatoid arthritis and osteoarthritis. To determine the functional roles of Mmp13, we generated Mmp13-null mice that showed profound defects in growth plate cartilage with markedly increased hypertrophic domains as well as delay in endochondral ossification and formation and vascularization of primary ossification centers. Absence of Mmp13 resulted in significant interstitial collagen accumulation due, in part, to the lack of appropriate collagenase-mediated cleavage that normally occurs in growth plates and primary ossification centers. Cartilaginous growth plate abnormalities persisted in adult mice and phenocopied defects observed in human hereditary chondrodysplasias. Our findings demonstrate a unique role of Mmp13 in skeletal development.

Animals↗