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At least 127 records · Page 7Linked to original sources
PubMed2002

Thoracic vertebral body exostosis as a cause of myelopathy in a patient with hereditary multiple exostoses.

The posterior thoracic vertebral body appears to be a novel origin for an exostosis causing myelopathy. A patient with hereditary multiple exostoses and myelopathy caused by an exostosis originating from the posterior aspect of the T5 vertebral body was treated with a staged anterior decompression/corpectomy and posterior spinal fusion. The patient had near-complete resolution of his myelopathy immediately after undergoing removal of the exostosis through a right-sided lateral thoracotomy approach. This was a unique origin for an exostosis causing spinal cord compression in a patient with hereditary multiple exostoses. The delivery of the exostosis was performed en bloc during the anterior decompression and corpectomy portion of the surgery. This resulted in the expected favorable outcome.

Adolescent↗
PubMed2003

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.

Bone Lengthening↗
PubMed1986

Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23.

We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which exostoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.

Abnormalities, Multiple↗
PubMed2006

The genotype-phenotype correlation of hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is an autosomal dominant condition with a wide spectrum of clinical presentations. The purpose of this study was to determine the relationship between the genotype and the phenotype in HME. Thirty-two affected individuals from 10 families participated in the study. An extensive description of HME phenotype in terms of the anatomical burden of disease involved clinical and radiographic examinations and evaluation of 76 parameters. Mutations were determined by sequencing the EXT 1 and EXT 2 genes. Mutations were found in eight families (26 individuals), with one mutation previously reported in the literature and seven novel mutations. There were seven subjects with an EXT 1 mutation and 16 with an EXT 2 mutation. Patients with EXT 1 mutation were found to have more exostoses, more limb malalignment with shorter limb segments and height, and more pelvic and flatbone involvement. A genotype-phenotype correlation exists in HME, with patients with EXT 1 mutations having a higher degree of anatomical burden.

Adolescent↗
PubMed1981

Hereditary multiple exostoses: report of a kindred.

In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk. In large pedigrees with essentially complete ascertainment of affected subjects, the risk of malignancy is nearer 3% or less. This lower risk for malignancy may be more appropriate in counselling affected subjects.

Adolescent↗
PubMed2001

Genotype-phenotype correlation in hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes encode glycosyltransferases involved in biosynthesis of heparan sulphate proteoglycans. Here we report on a clinical survey and mutation analysis of 42 HME French families and show that EXT1 and EXT2 accounted for more than 90% of HME cases in our series. Among them, 27/42 cases were accounted for by EXT1 (64%, four nonsense, 19 frameshift, three missense, and one splice site mutations) and 9/42 cases were accounted for by EXT2 (21%, four nonsense, two frameshift, two missense, and one splice site mutation). Overall, 31/36 mutations were expected to cause loss of protein function (86%). The most severe forms of the disease and malignant transformation of exostoses to chondrosarcomas were associated with EXT1 mutations. These findings provide the first genotype-phenotype correlation in HME and will, it is hoped, facilitate the clinical management of these patients.

Age of Onset↗
PubMedDate not supplied

Surgery for external auditory canal exostoses: a report of 182 operations.

The pre-operative findings and operative outcome were evaluated from patient records in 136 patients (182 ears) who had surgery for external auditory canal (EAC) exostoses. Furthermore, 114 patients (84%) replied to a questionnaire inquiring about the symptoms and the operation's impact on their quality of life. The main symptoms prior to the surgery were recurrent external otitis, hearing loss and wax retention. Interestingly, 23 patients (21%) were operated without any symptoms. After the operation, 75 patients (66%) had relief of their symptoms. In 33 patients (29%) the symptoms remained the same, and in 5 patients (4%) they became worse. The quality of life improved in 77 patients (68%); 19 patients (14%) had a complication due to the surgery, and 8 patients (6%) needed a re-operation. The surgery for EAC exostoses should be reserved only for symptomatic cases and only for experienced specialists in order to minimize complications and unnecessary operations.

Adolescent↗
PubMed2005

Ossicular discontinuity and exostoses in Proteus syndrome: a case report.

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by mosaic overgrowth of multiple tissues that manifests early in life and is progressive. The presence of unilateral external auditory canal exostoses in a patient who is not a swimmer or surfer is suggestive of PS. However, hearing loss is not a typical feature. Here, we describe exostoses and ossicular discontinuity with conductive hearing loss in a patient with PS. The treatment consisted of canalplasty and ossicular chain reconstruction. A postoperative reduction was demonstrated in the patient's air-bone gap, from 21 dB to 13 dB for the pure tone average (four frequencies) and from 41 dB to 15 dB in the high-frequency range (6,000 to 8,000 Hz). Causes of ossicular discontinuity are discussed. Routine annual audiometric and otolaryngological evaluation should be considered in all patients with temporal bone involvement of PS.

Adolescent↗
PubMedDate not supplied

A comparative study of the frequency of anterior impingement exostoses of the ankle in dancers and nondancers.

True lateral roentgenograms were obtained in 100 nondancers and 32 professional dancers to determine the incidence of anterior talar exostoses. The average age of the nondancers was 45.8 years as compared to 23.0 years in the dancer population. Both groups were asymptomatic in the region of the foot and ankle. All exostoses on the dorsum of the talar neck measuring greater than 1 mm were recorded.

Adolescent↗
PubMed2004

Prevalence of external auditory canal exostoses in Australian surfboard riders.

This paper assessed 300 surfboard riders, comprising 229 males and 71 females to determine the prevalence and rate of growth of exostoses in this population. A group of cold water swimmers and a control group were also examined. Significant obstruction, defined as two thirds or more occlusion of the ear canal was noted in 90 of the male surfers and 10 female surfers. This degree of occlusion was found in seven of the 32 cold water swimmers. A male surfer who has surfed regularly for 20 years or more has a one in two chance of developing significant obstruction of the external ear canal resulting from exostoses and this is a three in seven chance for females.

Adult↗
PubMed1994

The natural history of hereditary multiple exostoses.

We established a database of hereditary multiple exostoses for the state of Washington, on the basis of a retrospective review of the medical records and a clinical evaluation of family members, to determine the prevalence, clinical range of expression, and rate of malignant degeneration. The database comprised forty-six kindreds with 113 affected members; all kindreds had at least one member living in the state of Washington. The over-all prevalence was at least one in 50,000. Approximately 10 per cent of the subjects had no family history of multiple exostoses. With the use of twenty-three pedigrees that demonstrated an adequate multigenerational history for determination of penetrance of the gene, we identified one unaffected individual among twenty-six obligate heterozygotes, a rate of penetrance of 96 per cent. There was no evidence for a substantial reduction of penetrance in female subjects. The median age at the time of the diagnosis in the 113 affected individuals was three years (range, birth to twelve years). In a cohort of eighty-four subjects for whom we had complete information, the clinical range of expression was wide: thirty-three (39 per cent) had an obvious deformity of the forearm, eight (10 per cent) had an inequality in the lengths of the limbs, seven (8 per cent) had an angular deformity of the knee, and two (2 per cent) had a deformity of the ankle. The average number of operations for the patients for whom the operative history was known was two.(ABSTRACT TRUNCATED AT 250 WORDS)

Bone Neoplasms↗
PubMed1996

Function of the upper extremities in hereditary multiple exostoses.

The radiographic anatomy, functional status, and impairment ratings of twenty-eight patients (fifty-six extremities) who had hereditary multiple exostoses were evaluated. The patient (or the parent) also subjectively graded the function of each extremity with use of a standard rating-assessment tool. Degenerative joint disease was evident in three (5 per cent) of the fifty-six extremities at the time of follow-up, when the patients were an average of twenty-one years old. With use of the hand test of Jebsen et al., the average score was in the forty-seventh percentile for the dominant extremity and in the twenty-eighth percentile for the non-dominant extremity. Loss of pronation and supination increased with increasing age. Dislocation of the radial head was significantly associated with negative ulnar variance (p=0.008) and with the impairment rating (p=0.001), but not with the subjective score or with the performance on the hand test of Jebsen et al. So-called whole-person impairment ratings ranged from 0 to 17 per cent (average, 5 per cent). It has been our experience that deformities of the upper extremity in patients who have hereditary multiple exostoses are well tolerated and lead to little loss of function as measured both subjectively and objectively.

Adolescent↗
PubMed1978

Bone scintigraphy in hereditary multiple exostoses.

Two adult patients with multiple hereditary exostoses, a skeletal disorder with recognized malignant potential, each demonstrated increased 99mTc diphosphonate uptake in an exostosis in which renewed growth had begun. None of the other multiple exostoses in either patient showed abnormal uptake. Histologic study of the lesions demonstrated chondrosarcoma in one case and benign osteochondroma in the second. Although bone scintigraphy nonspecifically identifies bone growth rather than malignant degeneration, it is more useful than radiographic bone survey in the periodic surveillance of adult patients with this disorder.

Adult↗
PubMed2002

[Multiple exostoses. The first 4 Congolese cases].

UNLABELLED: Multiple cartilaginous exostoses disease is a deforming chondrodysplasia with a single autosomal dominant transmission and complete penetrance. In this work, we report 4 Congolese cases diagnosed over a period of 10 years in the rheumatology department of the Brazzaville university hospital, with complete picture and familiar form. RESULTS: Number = 3 females and 1 male aged respectively 14, 18, 20 and 21 years, including 1 brother and 1 sister. Low height and weight, concave forearm, short ulneas, limitation in pronation and supination movement, bilateral knee valgus, ankle valgus, cubic feet. Dextroconvex dorsal scoliosis and blue sclera were observed. Multiple exostoses in descending metaphysis in 1/3 superior of the tibias, humerus, ulneas and peroneal bones; ascending of 1/3 lower of both femur, ulneas and tibias; at the level of great and small trochanters with enlargement of the metaphysis; superior radio-ulnar and peroneo-tibial synostosis; spina bifida in D1-D2; tomato shape of the pelvis. Exostosis is an benign ostochondroma of spongious bone. Because of the risk of the disease developing into cancer, regular control of patients is warranted.

Adolescent↗
PubMed2004

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].

OBJECTIVE: To identify the gene causing hereditary multiple exostoses in a Chinese pedigree. METHODS: Linkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced. The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to amplify the mutated mRNA. RESULTS: The disease-causing gene of the family was linked to the EXT2 locus on chromosome 11. A mutation IVS2+1G>A was detected in EXT2 and resulting in 221 bp deletion from 316 to 536 of coding sequence(CDS), which was co-segregated with the disease phenotype. This change led to deletion from codon 106 to codon 178 and subsequent 2 nucleotides, producing a frameshift and truncated protein of 125 aa. CONCLUSION: The mutation IVS2+1G>A is the disease-causing mutation in the Chinese pedigree with hereditary multiple exostoses.

Exostoses, Multiple Hereditary↗
PubMed1992

Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?

We describe a 37 year old man with a history of a gait disorder which had been worsening over a period of three years. Clinical examination showed the typical signs of a spastic tetraparesis with increased tone of all the extremities. Sensation, autonomic and cerebellar functions were not disturbed. Multiple exostoses had been present since early childhood, but none had been found in the spine or the cranium to cause the tetraspastic disorder. MRI scan was normal. Pedigree analysis of four generations showed that other family members were affected by both disorders. Chromosomal analysis was normal. We consider this to be a previously unknown hereditary syndrome transmitted as an autosomal dominant and manifesting a combination of spastic tetraparesis and multiple exostoses.

Adult↗
PubMed2006

[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].

OBJECTIVE: To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation. METHODS: Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation. RESULTS: By DNA sequencing, a mutation in the seventh intron was detected and located at 26 bp of 3' splice site upstream in EXT1 gene, which was unreported before. Mismatch primer amplification and restriction fragment length polymorphism analysis suggested that this mutation was not detected in the normal control. CONCLUSION: The mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.

DNA Mutational Analysis↗