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PubMed1989

[A combination of multiple cartilaginous exostoses and enchondromatosis of bone in a family].

Four cases of multiple cartilaginous exostoses in a family (mother and three children) are described. In two children the exostoses are combined with enchondromatosis of the large tubular bones. At some phalanges of these children the changes show the roentgenologic signs of solitary enchondromas and ecchondromas and in one of the cases with cartilaginous exostoses osteochondroma-like changes were found. The combination of the described symptoms seems to indicate a close relationship between enchondromatosis and the cartilaginous exostoses, as well as between these chondrodysplasias and the cartilaginous tumours.

Adult↗
PubMed1987

Experimental lathyrism: exostoses and aneurysmal-like bone cysts of the mandible in the rat.

The effect of chronic lathyrism on the mandible of the rat was studied. Exostoses, thinning and discoloration of the cortical plates, intraosseous bleeding and hemorrhagic cyst were observed after six weeks of administration of beta-aminoproprionitrile fumarate. The exostoses consisted of homogeneous cellular fibrous tissue containing osteoid, hyalin-like material and abundant ground substance. The cysts were filled with erythrocytes and lined by spindle-shaped fibroblasts, collagen fibers or osteoblast-like cells. Between the cysts, bands and sheets of dense and cellular connective tissue presenting foci of hemorrhage, osteoid and metaplastic cartilage were found. Numerous mast cells were demonstrated with alcian and toluidine blue in the hematopoietic bone marrow, cancellous bone and around the capillary network surrounding the exostoses and cysts. Exostoses have already been studied and explained by the action of BAPN (lysyl oxidase). Hemorrhagic cysts could be explained by histamine release from the mast cells (hypervascularity, hyperemia, increased permeability, rupture and progressive confluence of these small hemorrhagic cysts). Histopathology of the experimental cysts had some points in common with the human aneurysmal bone cyst. Could the pathogenic mechanisms be similar for both lesions?

Aminopropionitrile↗
PubMed1986

Subacromial impingement syndrome in hereditary multiple exostoses.

An unusual cause of subacromial pain was observed in a 32-year-old woman with multiple exostoses. The pain was the direct result of the mechanical impingement syndrome from these exostoses. Hereditary multiple exostoses should be investigated systematically, because many other, more common pain-producing conditions are possible. Secondary malignant degeneration of one of the cartilaginous coverings of the exostoses is very rare.

Acromion↗
PubMed1984

Hereditary multiple exostoses. Report of a family.

In a family with hereditary multiple exostoses (diaphyseal aclasis), six generations are known to have been affected. Thirty-three of 85 family members have had the disorder. This condition affects the long bones, pelvis, scapulae, and ribs, and the exostoses continue to enlarge until epiphyseal fusion occurs. Associated deformities, including short stature and malformations of the wrist and ankle, were found in 72%. Fifty percent of affected individuals were moderately or severely handicapped; women and men were affected with equal severity. Exostoses were usually noted by two years and always by five years of age. Hereditary multiple exostoses is inherited as an autosomal dominant condition and is inherited as an autosomal dominant condition and in this familial study the gene showed 93% penetrance. Only one individual appeared clinically normal but nevertheless transmitted the gene to offspring. Red cell antigens, enzymes, and serum enzymes were studied, but none were positive for linkage to the gene for this disease. The frequency of sarcomatous change varies between 3% and 25% in reports in the literature, but no cases occurred in six generations of this family.

Adolescent↗
PubMed1983

Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

A patient with multiple exostoses, mental retardation, and unusual facies has an interstitial deletion of the long arm of chromosome 8, or 46,XX, del (8) (pter leads to q22::q24.1 leads to qter). She has some features of the Langer-Giedion syndrome, but her facies are not characteristic and she does not have cone-shaped phalangeal epiphyses. Of the eight previous reports of partial deletion of the long arm of chromosome 8, four patients had exostoses and unusual facies, three of whom had characteristics of the Langer-Gieldion syndrome. The deleted segments in the patients with exostoses are not identical, although there are areas of deletion that are seen in more than one patient. Among the explanations of the relationship of the 8q deletions to exostoses is the presence of several loci on 8q that are involved in bone formation, the deletion of any of which may give rise to a similar skeletal defect.

Adolescent↗
PubMed1984

Correlative radiographic, scintigraphic, and histological evaluation of exostoses.

We reviewed the cases of twenty-four patients with solitary or multiple exostoses to correlate their radiographic, scintigraphic, and histological evaluations. We studied twenty-five excised lesions, two of them exostotic chondrosarcomas, from twenty-two patients. There were two patterns of bone-scan activity and there was a direct correlation between enchondral bone formation and radionuclide uptake in all patients, both skeletally immature and mature. So-called quiescent lesions--those with inactive scans--were those that lacked histological evidence of enchondral bone formation. Those with increased uptake--active exostoses--all demonstrated active formation of enchondral bone. Evidence of active exostotic growth could be demonstrated on bone scans well beyond the time of skeletal maturity. The bone scan did not qualitatively differentiate the benign active exostoses from the two lesions with malignant degeneration. Increased uptake related to enchondral bone formation was a feature of both. An inactive scan, however, seemed to exclude the possibility of malignant degeneration in the exostosis.

Adult↗
PubMed1996

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Individuals with deletions of the proximal portion of the short arm of chromosome 11 share many manifestations including mental retardation, biparietal foramina, minor facial anomalies, and multiple cartilaginous exostoses. The finding of multiple exostoses in these patients is remarkable as the disorder hereditary multiple exostoses, which is inherited in an autosomal dominant manner, has recently been mapped by linkage to three regions, including proximal 11p. We report the clinical and molecular findings in an additional patient with an 11(p11.2p12) deletion. Cytogenetic and molecular analysis demonstrated a de novo, paternally derived deletion for markers which have been shown to be tightly linked to the 11p locus (EXT2). These data support the location of EXT2 within this region and also provide information regarding the ordering of polymorphic markers on 11p. Deletion 11(p11.2p12) is a rare, yet specific, deletion syndrome involving the EXT2 locus, a gene for parietal foramina, and a mental retardation locus, and therefore can be classified as a contiguous gene deletion syndrome.

Child↗
PubMed2000

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses. To date, 49 different EXT1 and 25 different EXT2 mutations have been found in EXT patients, and there is evidence that mutations in these two genes are responsible for over 70% of the EXT cases. Among the 49 EXT1 mutations there are 9 nonsense, 21 frameshift, and 5 splice site mutations; 2 in-frame deletions of 1 and 5 amino acids respectively; and 12 missense mutations. For EXT2, 8 nonsense, 11 frameshift, 3 splice site and 3 missense mutations are described. The majority of these mutations are mutations causing loss of function, which is consistent with the presumed tumor suppressor function of the EXT genes.

Exostoses, Multiple Hereditary↗
PubMed2000

Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses.

Autosomal dominantly transmitted hereditary multiple exostoses is an uncommon disorder consisting of multiple projections of bone capped by cartilage. The lesions are most numerous in the metaphyses of long bones but may appear on flat bones. Sarcomatous transformation occurs in 1-25% of patients. We report a 33-year-old man with sciatica, previously diagnosed as hereditary multiple exostoses, presenting with multiple peripheral nerve compressions. Electrodiagnostic studies showed profound axon-loss multiple neuropathies involving the sciatic, superior gluteal, and inferior gluteal nerves. Magnetic resonance imaging of the left pelvis showed a large mass in the sacral area that was suggestive of a chondrosarcoma. An open intralesional excision biopsy confirmed chondrosarcoma transformed from chondromatosis. Excision of the lesion was effective in eliminating the impingement of nerves and retarding progressive osseous growth. We suggest that malignant transformation be suspected in cases with focal compression neuropathy of patients known to have multiple exostoses. Osteochondroma as a possible cause for compression neuropathy is discussed.

Adult↗
PubMed1984

Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses.

This is a report of a family with major focus on the daughter who was of short stature. The mother had hypochondroplasia and the father had multiple exostoses. The daughter's skeletal roentgenograms show features of both hypochondroplasia and multiple exostoses. The roentgenographic, clinical and genetic aspects of these skeletal dysplasias are reviewed and hypochondroplasia is contrasted with achondroplasia. The genetic and counseling implications of the association of hypochondroplasia and multiple exostoses are discussed.

Child, Preschool↗
PubMed1995

Spontaneous regression of exostoses: two case reports.

Exostoses are a common skeletal disorder. Despite their incidence, little is yet known about their origin and biological behaviour. In particular, spontaneous regression of exostoses--an extremely rare event--is still a subject for debate. In this study, we describe two additional cases of spontaneous regression of exostosis; one was a solitary lesion while the other occurred in a patient with multiple heritable exostoses. Radiographic findings are presented along with some of the theories which aim at explaining this phenomenon.

Bone Neoplasms↗
PubMed2001

A man with hereditary exostoses and high-grade non-Hodgkin's lymphoma of the bone.

Multiple cartilaginous exostoses (MCE) is an autosomal dominant disorder that can lead to malignant transformation from exostoses to a secondary chondrosarcoma. We present a case report of a 52-year-old man with MCE who had a palpable mass at the left shoulder. At the site of the left proximal humerus, a cartilaginous exostosis was localized, suggesting that the tumor developed by a malignant transformation of an exostosis into a secondary chondrosarcoma. Interestingly, a biopsy showed a diffuse large B-cell lymphoma with Burkitt-like features. To our knowledge, the association of high-grade lymphoma and hereditary exostoses has not been described previously. This case demonstrates that a malignant tumor at the location of a cartilaginous exostosis is not necessarily a chondrosarcoma and that a biopsy is an essential part of the diagnostic work-up.

Bone Neoplasms↗
PubMed2005

Acute spinal cord compression in hereditary multiple exostoses.

Osteocartilaginous exostoses are benign bone tumors frequently found in the metaphysis of long bones but rarely in the spine. Four patients with acute spinal cord decompensation due to vertebral exostoses spinal cord compression have been previously described in the literature. We report an additional case of rapidly evolving spinal cord compression due to a cervical osteochondroma in a patient with hereditary multiple exostoses (HME), also known as Bessel Hagen disease. Careful analysis of the 5 cases suggested to us that patients with HME should have a systematic spinal imaging screening, in order to prevent rapid neurological decompensation. A minimal risk surgical procedure can be performed at a time of election.

Adult↗
PubMed1999

Coexistence of hereditary multiple exostoses and ankylosing spondylitis.

We report a 50-year-old male patient with hereditary multiple exostoses (HME) and ankylosing spondylitis (AS). This is the first case reporting the coexistence of HME and AS. Our patient has multiple exostoses around the knee, elbow and wrist joints. At the age of 40 years, pain in the lower back associated with morning stiffness lasting about an hour and improving with exercise began. His son also has hereditary multiple exostoses but has no sign of AS. HME is an autosomal dominant disorder. AS has a remarkably strong association with the histocompatibility antigen HLA-B27. Owing to the different genetic mechanisms, it is not possible to differentiate between coincidence and association. Coexistence of HME and AS in our patient probably represents a coincidence rather than a real association.

Adult↗
PubMed2004

[Prevalence of exostoses among surfers of the Basque Coast].

Exostoses of the External Auditory Canal are benign bony tumours very common in individuals who frequently practice water activities. The objective [corrected] of this study is to determine the prevalence of exostoses in a population of surfers of the Basque Coast. We have studied the correlation between years surfing and the prevalence and severity of exostoses. We have done a cross-sectional epidemiological study giving a questionnaire Twenty-five of the 41 surfers had surfer's ear (61%) and the prevalence was significantly higher in those who had surfed for more than 10 years (p < 0.05). Severity was also higher in the first group (p < 0.05). The relation between the hours dedicated to the sport showed similar results. only one of the 24 cases needed surgery (4%).

Adult↗
PubMed2002

[Hereditary multiple exostoses after 40 years of development: a case report].

INTRODUCTION: Hereditary multiple exostoses is an autosomal dominant skeletal disorder with genetic heterogeneity and an estimated prevalence of 1/50,000 in western countries. Malignant degeneration is a rare (about 2%) but classical complication in patients with hereditary multiple exostoses. At least 3 loci identified as EXT 1, EXT 2 and EXT 3 are involved in this skeletal disease. EXEGESIS: The case of a 45-year old man is described with 15 years follow-up after resection of a well-differentiated chondrosarcoma (grade I), which arose from a right posterior pelvic exostosis. The observed radiological lesions remained relatively stable until now. The genetic mutation which is responsible for the disease was determined at the locus EXT 1. CONCLUSION: The present case report illustrates the natural history of hereditary multiple exostoses, especially since the patient underwent a malignant degeneration which could be resected without recurrence. The results of the genetic analysis contributed to the understanding of the pathophysiology of the disease.

Bone Neoplasms↗
PubMed2006

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.

Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autosomal dominant disorder characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported. Recently, the EXT1 and EXT2 genes were identified by positional cloning. Using polymerase chain reaction and direct sequencing, we analyzed the EXT1 and EXT2 genes in three familial cases and one sporadic case of HME in Taiwanese patients. We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene). Mutation analysis in families with HME allows for genetic counseling and prenatal diagnosis.

DNA Mutational Analysis↗
PubMed1994

Surgery for external auditory canal exostoses and osteomata.

The popularity of water sports in Western Australia results in a high demand for surgery for meatal exostoses when compared to Europe or North America, and such procedures for advanced exostoses present a technical challenge. We report on a decade of experience in exostosis and osteoma surgery consisting of 127 procedures on 102 patients. Exostectomy was an access manoeuvre for other otological procedures in 13 cases and five procedures were for regrowth of exostoses. Minor complications were seen after 22 per cent of operations. Major complications were experienced after five per cent for example canal stenosis, temporomandibular joint prolapse, sensorineural loss, persistent deep bony lip and persistent tympanic membrane perforation. There were no facial palsies. Exostosis surgery should be reserved for failed conservative treatment and attention focused on adequate access, meatal skin preservation and tympanic membrane protection. An approach which concentrates on safe anterior landmarks and wide exposure is recommended to avoid serious complications.

Adolescent↗