Multiple Cartilaginous Exostoses Research Articles

Single-stage treatment of complete dislocation of radial head and forearm deformity using distraction osteogenesis in paediatric patients having multiple cartilaginous exostosis

We are reporting the results of single-stage treatment for patients with forearm deformity and radial head luxation due to hereditary multiple exostosis using distraction osteogenesis. Six patients with a mean age of 12 years were treated. Morphological evaluation was made according to Masada (3 of the cases were 2a and 3; 2b). Angular deformities of forearm and wrist were evaluated as described by Fogel (distal radial joint angle was 27°, ulnar variance was 12.8 mm and carpal slip was 71.3%). Mean forearm pronation was 48.4° whilst mean supination was 19.2°. Mean elbow range of motion was 26.6°-103.4° and the mean DASH score was 75. Common surgical procedures were deformity correction, ulnar lengthening and gradual radial head reduction using external fixators. Mean follow-up period was 4.2 years and mean external fixation time was 6 months. Mean amount of ulnar lengthening was 2.9 cm and the distraction index was 14.9 cm/day. Mean radial articular angle was 14.3°, ulnar variance 2.3 mm, carpal slip 55%, forearm pronation 65.9° and supination was 55°. Mean elbow range of motion was 15.8°-119.2°. In the last follow-up, the mean value of DASH score was 8.1. Major and minor complications were seen during the follow ups. Single-stage deformity correction, ulnar lengthening and radial head reduction technique that we have used provide satisfactory functional and cosmetic results. Early surgical correction may lead to even better results.

Advantages in Vascular Tumors

The authors provide an extensive overview of the uses of whole-body magnetic resonance imaging (MRI) in manifold diseases. However, we wish to make two comments with regard to the use of whole-body MRI in benign or malignant tumors. It is correct to state that multiple cartilaginous exostoses entail the risk of malignant transformation (1). However, such transformations usually occur in elderly patients, and we agree that repeated radiographic examinations in young patients are certainly not advisable. However, the question arises whether all known exostoses should be subject to regular radiological (MRI) control examinations from childhood onwards. In our hospital, patients with clinically controllable exostoses on the peripheral skeletal system are fully informed about the fact that if these increase in size after patients have reached their full physical height, malignant transformation is the first diagnosis that springs to mind. In such cases, local MRI at the highest resolution should be conducted in order to determine the cartilage cap, so as to gain closer insights into a possible transformation. In exostoses that are close to the trunk and less easily clinically controlled, regular local MRI scanning is certainly a sensible option. Altogether, the question is whether in the cases mentioned above the more time-consuming and costlier whole-body MRI may lead to earlier detection of the transformation, thus conferring a prognostic advantage. As far as we are aware, no studies have been conducted in this regard. By contrast, we think that whole-body MRI offers a diagnostic advantage in patients with vascular tumors (for example, angiosarcomas). Because of their multifocality, these can often not be diagnosed by using conventional radiography or szintigraphy (2). In this setting, whole-body MRI can detect even smaller infiltrations of the bone marrow cavity, which will have to be made accessible to surgical treatment (3).

Whole-Body Imaging of Bone Marrow

For bone marrow screening, multimodality algorithms including conventional radiographs, bone scintigraphy, multislice computed tomography CT (MS-CT) scan, and dedicated magnetic resonance imaging (MRI) are widely established in clinical routine. Although radiographs are used as a basic imaging procedure for clarification of suspected focal bone pathologies, low sensitivity has been reported for the detection of limited osteolytic bone marrow destruction. Therefore, skeletal scintigraphy often is used as a more sensitive and integrated method in patients with suspected malignant bone marrow disease. MS-CT scan is the method of choice in the assessment of bone stability and allows for evaluation of fracture risk. Hybrid imaging concepts, such as positron emission tomography-computed tomography (PET-CT) scan, have been established as an effective tool for the detection of skeletal metastases, using the additional metabolic information of a PET scan for the assessment of tumor viability and therapy response. MRI is an imaging technique that allows direct visualization of bone marrow components with high spatial resolution. The unique soft-tissue contrast of MRI enables precise assessment of bone marrow infiltration before osteolytic changes become visible in MS-CT or metabolic changes occur in bone scintigraphy or a PET scan. Furthermore it can depict tumor expansion into adjacent paraosseous structures, such as the spinal canal. The development of multichannel whole-body MRI (WB-MRI) systems has enabled bone marrow screening without use of ionizing radiation at high diagnostic accuracy. Parallel imaging techniques in combination with global matrix coil concepts, as well as the introduction of high-field whole-body scanners, have substantially reduced acquisition times without compromises in spatial resolution. WB-MRI has successfully been applied for screening of bone metastases and hematologic bone marrow diseases, like multiple myeloma, lymphoma, and histiocytosis X. Furthermore, it has recently been proposed for the assessment of primarily benign bone diseases predisposing for malignancy (e.g., multiple cartilaginous exostoses). This article provides an overview of state-of-art whole-body imaging of the bone marrow and highlights present and potential future applications, especially in the field of WB-MRI.

Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)

The tricho-rhino-phalangeal syndrome type II (TRPS II) is characterized by sparse scalp hair, a long nose with a bulbous tip, a long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous exostoses. All patients have a hemizygous deletion on chromosome 8q23.3-24.11 which spans at least the 2.8 Mb-region from TRPS1 through EXT1. Only patients with deletions that extend beyond this interval tend to have mental retardation. Here we describe a 14.5-year-old girl with mental retardation and TRPS II. Her facial features are only mild, but she has the typical skeletal features including cone-shaped epiphyses at the phalanges, retarded bone age, multiple exostoses and short stature. She is the first patient with TRPS II and a molecularly proven mosaic interstitial deletion in 8q22.3-q24.13. The deletion is one of the largest ever found in TRPS II, and spans 19.79 Mb and 50 genes or loci including TRPS1 and EXT1. The degree of mosaicism is 7% in lymphocytes from peripheral blood and 97% in skin fibroblasts.

Characteristic Factors of Ankle Valgus With Multiple Cartilaginous Exostoses

Ankle valgus is one of the most common deformities in multiple cartilaginous exostoses (MCEs). However, the characteristic factors of ankle valgus are not well known. To determine the characteristic factors of ankle valgus in MCE, we investigated 62 ankles in 33 patients (23 males, 10 females) with no history of surgical treatment of ankles with MCE. Mean age at investigation was 11 years 4 months (range, 2 years 7 months-17 years 1 month). We evaluated Taniguchi classification, tibiotalar angle (ankle valgus), site of exostoses in the distal tibia and distal fibula, fibular shortening (Malhotra classification), and correlations between these factors. According to Taniguchi classification, patients were classified as group II (n = 8), group III (n = 18), or unknown (n = 7). Mean tibiotalar angle was 5.1 degrees (range, -4 to 20 degrees) in males and -0.8 degrees (range, -5 to 7 degrees) in females. Significant differences in ankle valgus were found between sexes within the same age group, and ankle valgus progressed with age in males. Ankles with involvement of both lateral distal tibia and medial distal fibula showed significantly more severe ankle valgus than ankles with involvement of the lateral distal tibia alone or no involvement. In Malhotra classification, all except 1 ankle showed station 0 in females. All cases of station II or III involved males and degree of fibular shortening correlated with ankle valgus in males. Taniguchi group III was associated with more frequent involvement of both lateral distal tibia and medial distal fibula in males, and greater frequency of both fibular shortening and ankle valgus with >or=10 degrees was seen compared with Taniguchi group II. Several characteristic factors of ankle valgus in MCE seem to predict progression.

Long-Term Results of Surgery for Forearm Deformities in Patients with Multiple Cartilaginous Exostoses

Surgical treatment of forearm deformities in patients with multiple cartilaginous exostoses remains controversial. The purpose of the present study was to determine the reasonable indications for operative treatment and to evaluate long-term results of forearm surgery in these patients. We retrospectively reviewed twenty-three patients (thirty-one forearms) after a mean duration of follow-up of nearly thirteen years. The mean age at the time of the initial procedure was eleven years. The patients underwent a variety of surgical procedures, including excision of exostoses; corrective procedures (lengthening of the radius or ulna and/or corrective osteotomy of the radius and/or ulna) and open reduction or excision of a dislocated radial head. Clinical evaluation involved the assessment of pain, activities of daily living, the cosmetic outcome, and the ranges of motion of the wrist, forearm, and elbow. The radiographic parameters that were assessed were ulnar variance, the radial articular angle, and carpal slip. Four patients had mild pain, and five patients had mild restriction of daily activities at the time of follow-up. Eight patients stated that the appearance of the forearm was unsatisfactory. Radiographic parameters (ulnar variance, radial articular angle, carpal slip) were initially improved; however, at the time of the final follow-up visit, the deformities had again progressed and showed no significant improvement. The only procedure that was associated with complications was ulnar lengthening. Complications included nonunion (three forearms), fracture of callus at the site of lengthening (two forearms), and temporary radial nerve paresis following an ulnar distraction osteotomy (one forearm). Excision of exostoses significantly improved the range of pronation (p = 0.036). In our patients with multiple cartilaginous exostoses, corrective osteotomy and/or lengthening of forearm bones was not beneficial. The most beneficial procedure was excision of exostoses. Reasonable indications for forearm surgery in these patients are (1) to improve forearm rotation and (2) to improve the appearance.

Long-Term Results of Surgery for Forearm Deformities in Patients with Multiple Cartilaginous Exostoses

Long-Term Results of Surgery for Forearm Deformities in Patients with Multiple Cartilaginous Exostoses

Whole-body imaging of the musculoskeletal system: the value of MR imaging.

In clinical practice various modalities are used for whole-body imaging of the musculoskeletal system, including radiography, bone scintigraphy, computed tomography, magnetic resonance imaging (MRI), and positron emission tomography-computed tomography (PET-CT). Multislice CT is far more sensitive than radiographs in the assessment of trabecular and cortical bone destruction and allows for evaluation of fracture risk. The introduction of combined PET-CT scanners has markedly increased diagnostic accuracy for the detection of skeletal metastases compared with PET alone. The unique soft-tissue contrast of MRI enables for precise assessment of bone marrow infiltration and adjacent soft tissue structures so that alterations within the bone marrow may be detected before osseous destruction becomes apparent in CT or metabolic changes occur on bone scintigraphy or PET scan. Improvements in hard- and software, including parallel image acquisition acceleration, have made high resolution whole-body MRI clinically feasible. Whole-body MRI has successfully been applied for bone marrow screening of metastasis and systemic primary bone malignancies, like multiple myeloma. Furthermore, it has recently been proposed for the assessment of systemic bone diseases predisposing for malignancy (e.g., multiple cartilaginous exostoses) and muscle disease (e.g., muscle dystrophy). The following article gives an overview on state-of-the-art whole-body imaging of the musculoskeletal system and highlights present and potential future applications, especially in the field of whole-body MRI.

Correction and lengthening for deformities of the forearm in multiple cartilaginous exostoses

BackgroundMultiple cartilaginous exostoses cause various deformities of the epiphysis. In exostoses of the ulna, the ulna is shortened and the radius acquires varus deformity, which may lead to dislocation of the radial head. In this study, we present the results of exostoses resection, with correction and lengthening with external fixators for functional and cosmetic improvement, and prevention of radial head dislocation. MethodsWe retrospectively reviewed seven forearms of seven patients who had deformities of the forearm associated with multiple cartilaginous exostoses. One patient had dislocation of the radial head. Operative technique was excision of osteochondromas from the distal ulna, correction of the radius, and ulnar lengthening with external fixation up to 5mm plus variance. We evaluated radiographs and the range of pronation and supination. Furthermore, we conducted a follow-up of ulnar length after the operation. ResultsDislocation of the radial head of one patient was naturally reduced without any operative intervention. At the most recent follow-up, six of the seven patients showed full improvement in pronation–supination. Ulnar shortening recurred with skeletal growth of four skeletally immature patients; however, it did not recur in one skeletally mature patient. Overlength of 5 mm was negated by the recurrence of ulnar shortening about 1.5 years after the operation. ConclusionsWe treated seven forearms of seven patients by excision of osteochondromas, correction of radii, and gradual lengthening of ulnas with external fixators. The results of the procedure were satisfactory, especially for function of the elbow and wrist. However, we must consider the possible recurrence of ulnar shortening within about 1.5 years during skeletal growth periods in immature patients.

Early historic human remains from the Hasekouji-Shuhen site in Kamakura, Japan

Eight human skeletons in a good state of preservation have been recovered from excavations at the Hasekouji-Shuhen site in Kamakura city, Kanto region, Japan. We conducted AMS radiocarbon dating that revealed the skeletons to belong to the early historic Asuka, Nara, and early Heian periods (circa 670–970 calAD). In terms of their cranial, dental, and limb bone measurements, the Hasekouji-Shuhen skeletons exhibit morphological characteristics that show affinities with the earlier Yayoi series, which are generally considered to represent immigrant populations from the Asian continent. Furthermore, an early indication of dolichocephalization was observed in these early historic people, a trait which became more pronounced in later medieval times. Three adult males have scars that may have been caused by assaults with a spear or a sword-like weapon. One male individual exhibits skeletal abnormalities including multiple cartilaginous exostosis.

Multiple cartilaginous exostosis in a Golden Retriever cross-bred puppy

Multiple cartilaginous exostosis was diagnosed in a six-month-old Golden Retriever cross-bred male with a history of forelimb lameness and isolated, but very painful, acute episodes. Physical examination revealed a right forelimb lameness with a firm, painful palpable mass on the cranial aspect of the forearm. The radiological examination showed the presence of bony masses at the humerus and radius as well as several masses in the ribs and spinous processes of the thoracic vertebrae. Based on the history and radiographic findings, multiple cartilaginous exostosis was diagnosed. Treatment with non-steroidal anti-inflammatory drugs was commenced for two weeks without any effect. Due to the lack of a response to the treatment as well as to the progressive physical deterioration of the animal, the owners requested euthanasia of the dog. Histology of the different exostoses demonstrated the presence of a hyaline cartilage cup surrounding a central area, formed mainly by bone and cartilage trabecullae. Signs of malignancy were not observed. Back-scattered scanning electron microscopy (BEI-SEM) study revealed well ordered and progressively calcified cartilage trabecullae present underneath the non-calcified cartilage cap. At a greater depth, those cartilage trabecullae became osteochondral trabecullae, and the innermost were formed exclusively by woven and lamellar bone. The histological and back-scattered electron scanning microscopy results conclude that it was a well-arranged normal endochondral ossification process that followed a centripetal pattern inside the bony mass, confirming the diagnoses of multiple cartilaginous exostoses.

Hemilaminectomia no tratamento de osteocondromatose vertebral em gato

O termo osteocondromatose refere-se a anormalidades proliferativas benignas de tecido cartilaginoso que acomete ossos de origem endocondral. Esta condição pode ser solitária ou múltipla e, neste último caso, é referida como exostose múltipla cartilaginosa (EMC). Em felinos, é caracterizada pelo surgimento em animais adultos e por apresentar desenvolvimento progressivo. A osteocondromatose pode ser silenciosa e o paciente poderá apresentar sinais clínicos quando o desenvolvimento das exostoses resultar em compressão de estruturas vitais, como a medula espinhal. Em felinos, a enfermidade não possui tratamento conhecido devido ao seu caráter recidivante. Este trabalho relata o êxito da aplicação de hemilaminectomia no tratamento de osteocondromatose vertebral em gato.

Hereditary multiple and isolated sporadic exostoses in the same kindred: Identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes

Hereditary multiple exostoses (HME) is a well known autosomal dominant hereditary orthopedic disorder. Isolated exostoses, on the other hand, occur as sporadic events or as secondary post-traumatic sequel. The occurrence of solitary exostoses in individuals from pedigrees affected with HME may distort conclusions about carrier status and/or diagnosis. Both conditions are potentially malignant and both are associated with genetic alterations in either EXT1 or EXT2 genes. In this study, we present a seven-generation family from western Sweden consisting of 170 blood relatives, 38 of whom had multiple cartilaginous exostoses, while 8 had isolated exostoses. Linkage analysis aimed to discern one of the known EXT genes demonstrated linkage of the HME phenotype to the EXT2 gene. Subsequent mutation analysis revealed a novel mutation, nt112delAT, in this gene. All carriers of the detected mutation had multiple exostoses, indicating full penetrance. None of the pedigree members with isolated exostoses were carriers of the detected mutation. Two of the mutation carriers developed chondrosarcoma yielding a 5.2% risk of malignant development for this mutation. The detection of this mutation has enabled us to provide appropriate genetic counseling concerning this complex situation.

Reconstruction of forearm deformities in multiple cartilaginous exostoses

The management of complex forearm deformities in patients with multiple cartilaginous exostoses is controversial. The objective of this study is to look into the outcome of treatment with the combined use of ulna lengthening, radial osteotomy, and excision of exostosis in our six patients, who all had Masada type 1 deformity of the forearm. Clinical assessment was performed using the pre- and postoperative range of motion of the wrist, forearm and elbow. The chief symptom each patient had was noted as well as the demographic data of all patients. Radiological assessment was performed by checking the degree of negative ulna variance, the radial articular angle, and the degree of carpal slip. The degree of satisfaction of the patients and their parents were noted. Good clinical and radiological results were obtained at a mean follow-up of 2.5 years. All patients and parents were satisfied and there was no recurrence of deformity in the latest follow-up. The authors believe in early and aggressive treatment of Masada type 1 deformity of the wrist and forearm for multiple cartilaginous exostoses with a combination of excision of exostosis, ulna lengthening and radial osteotomy.

Reconstruction of forearm deformities in multiple cartilaginous exostoses.

The management of complex forearm deformities in patients with multiple cartilaginous exostoses is controversial. The objective of this study is to look into the outcome of treatment with the combined use of ulna lengthening, radial osteotomy, and excision of exostosis in our six patients, who all had Masada type 1 deformity of the forearm. Clinical assessment was performed using the pre- and postoperative range of motion of the wrist, forearm and elbow. The chief symptom each patient had was noted as well as the demographic data of all patients. Radiological assessment was performed by checking the degree of negative ulna variance, the radial articular angle, and the degree of carpal slip. The degree of satisfaction of the patients and their parents were noted. Good clinical and radiological results were obtained at a mean follow-up of 2.5 years. All patients and parents were satisfied and there was no recurrence of deformity in the latest follow-up. The authors believe in early and aggressive treatment of Masada type 1 deformity of the wrist and forearm for multiple cartilaginous exostoses with a combination of excision of exostosis, ulna lengthening and radial osteotomy.

Reconstruction of forearm deformities in multiple cartilaginous exostoses

Reconstruction of forearm deformities in multiple cartilaginous exostoses

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

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. 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). 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. 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.

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5). We have positionally cloned a gene that spans the chromosomal breakpoint of two patients with TRPS I and is deleted in five patients with TRPS I and an interstitial deletion. Northern-blot analyses revealed transcripts of 7 and 10.5 kb. TRPS1has seven exons and an ORF of 3,843 bp. The predicted protein sequence has two potential nuclear localization signals and an unusual combination of different zinc-finger motifs, including IKAROS-like and GATA-binding sequences. We identified six different nonsense mutations in ten unrelated patients. Our findings suggest that haploinsufficiency for this putative transcription factor causes TRPS I.

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.

The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have constructed a contig of cosmid, lambda-phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the TRPS1 gene, we analyzed 23 human expressed sequence tags (ESTs) and four genes (EIF3S3, RAD21, OPG, CXIV) which had been assigned to human 8q24.1. Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and genes map to the minimal TRPS1 gene region and only two of these genes, RAD21 and EIF3S3, are located within the shortest region of deletion overlap of TRPS II patients. Two genes, OPG and CXIV, which are deleted only in some patients with TRPS II may contribute to the clinical variability of this syndrome.

Kissing osteochondromata leading to synostoses.

Our aim was to determine the incidence of synostoses in the bones of the lower limbs in patients with multiple cartilaginous exostosis (MCE) and use the available imaging to suggest the cause and mechanism of its development. Radiographs of the lower legs of 21 patients with MCE were reviewed. With the intention of demonstrating the exact site and extent of synostoses and other bone deformities, such as bone pressure atrophy or erosions in five patients, 8 proximal and 6 distal tibiofibular joints were examined by CT scans. No synostoses were present in 11 patients and 10 patients had 1 to 4 synostoses. Of these synostoses, 14 were localized below the knee joint and 9 above the ankle joint. A growing osteochondroma arising from tibia or fibula can cause an erosion in the contagious surface of the neighbouring bone. If facing osteochondromata are present in both bones and show an interlocking growth at abutting parts, on osseous fusion can take place with formation of a synostosis in the proximal or distal tibiofibular joint region. In adult patients with MCE and abundant osteochondromata synostoses between the neighbouring bones of the lower legs are common findings; they are always caused by coalescence of "kissing" osteochondromata.