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PubMed2005

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

Hereditary multiple osteochondromas (MO) is an autosomal dominant bone disorder characterized by the presence of bony outgrowths (osteochondromas or exostoses) on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes, which encode glycosyltransferases implicated in heparan sulfate biosynthesis. Standard mutation analysis performed by sequencing analysis of all coding exons of the EXT1 and EXT2 genes reveals a mutation in approximately 80% of the MO patients. We have now optimized and validated a denaturing high-performance liquid chromatography (DHPLC)-based protocol for screening of all EXT1- and EXT2-coding exons in a set of 49 MO patients with an EXT1 or EXT2 mutation. Under the optimized DHPLC conditions, all mutations were detected. These include 20 previously described mutations and 29 new mutations - 20 new EXT1 and nine new EXT2 mutations. The protocol described here, therefore, provides a sensitive and cost-sparing alternative for direct sequencing analysis of the MO-causing genes.

Chromatography, High Pressure Liquid↗
PubMed1988

Cutaneous manifestations of the Proteus syndrome.

The Proteus syndrome is a rare disorder in which the major manifestations are skeletal overgrowth, digital hypertrophy, exostoses of the skull, and hamartomatous tumors. Numerous skin lesions also occur. We treated six individuals, all of whom had the features unique to this syndrome of marked hypertrophy of the skin of the soles. The palms were similarly involved in two patients. Light microscopy of biopsy material from thickened areas of the soles showed elongation of the cytoplasm of the basal cells. Large epidermal nevi were present in three persons, as were linear macular lesions with areas of depigmentation and hyperpigmentation.

Abnormalities, Multiple↗
PubMedDate not supplied

Subungual exostosis: case report and review of the literature.

Subungual exostosis is typically a benign, acquired tumor of cartilaginous bone occurring on the medial surface of the distal hallux. A 16-year-old boy with subungual exostosis of his left great toe is presented. We evaluated the English language literature on this topic from 1857 to 1994; including our patient, 312 cases have been described. The diagnostic characteristics (histologic and radiologic), etiologic features, and therapeutic management were reviewed. Subungual exostosis more commonly affects women than men in a ratio of 2:1. Most lesions occur in the early twenties; however, a minimum of 51 (16%) of the 312 cases of subungual exostoses appeared in children 18 years of age or younger. Seventy percent of lesions occurred on the first hallux. There was frequently an association with trauma. The diagnosis of subungual exostosis may be suspected from the clinical presentation and confirmed with radiographic examination. The treatment is surgical.

Adolescent↗
PubMed2003

Oral ulceration with bone sequestration.

Oral mucosal ulceration is a common manifestation of various disease processes. Identification of the aetiological factor(s) involved greatly facilitates the management of such conditions. This report describes oral ulceration of the mucosa overlying the lingual shelf and mylohyoid ridge of the mandible and, less commonly on tori and exostoses, in association with bone sequestration. Trauma, which involves the subjacent periosteum resulting in a focus of ischaemic bone necrosis, in conjunction with local anatomical and perhaps other systemic predisposing factors, forms the aetiopathogenesis for this particular type of focal ulcerative lesion.

Anti-Infective Agents, Local↗
PubMed1984

External ear canal exostosis and aquatic sports.

Many reports suppose that the development of aural exostosis depends on the action of an irritative stimulus like frequent and repeated cold water contact. This survey studies the incidence of this lesion in a group of 433 athletes practicing aquatic sports on a highly competitive level. Among these, water activities like sailing and deep-sea diving, which up to now were never considered, were also studied. 32 exostoses were found to affect 12 subjects monolaterally and 20 subjects bilaterally. Not one of a control group of 476 athletes was found to be affected by aural exostosis. For each athlete in this study the following parameters are considered: age and sex, type of sport, total amount of hours spent in water contact, aural pathology history and otoscopic findings. The authors suggest the existence of facilitating factors other than total water contact time, as shown by the absence of a precise correlation between this parameter and the presence of the aural hyperostotic lesion.

Diving↗
PubMed1977

Morphology and incidence of torus palantinus and mandibularis in Brazilian indians.

The incidence and morphology of torus platinus and mandibularis was verified in 200 Indians, residents of two Brazilian Indian Reserves in São Paulo State, Brazil. A low incidence of both types of exostoses was observed, with torus palatinus occurring more frequently than mandibularis. These structures did not occur in individuals less than 10 years of age. Flattened torus palatinus predominated in relation to the other forms.

Adolescent↗
PubMed2004

Arthroscopic treatment for anterior impingement exostosis of the ankle: application of three-dimensional computed tomography.

The purpose of this study was to evaluate the operative results of excision of anterior impingement exostoses of the ankle. Preoperative three-dimensional computed tomography (3DCT) was used to make the diagnoses. The authors evaluated 16 ankles of 16 patients who underwent arthroscopic resection of the osteophytes of their anterior distal tibia or dorsal talus. They were followed up for 24-51 months. All 16 patients had 3DCT preoperatively, which allowed the authors to determine the exact location, shape, size, and number of the osteophytes. All of the osteophytes were resected using arthroscopic techniques. At the time of the most recent follow-up, the mean AOFAS score was 80.5 +/- 4.9 points at preoperation, and 97.0 +/- 3.7 points at the most recent follow-up. There were significant differences between the pre- and postoperative AOFAS scores and those of the most recent follow-up period for each group (p <.0001). It is necessary to clarify the location, size, shape, and number of all of the osteophytes preoperatively using 3DCT, and to then resect them all.

Adolescent↗
PubMed2005

Arthroscopic treatment of anterior ankle impingement syndrome in dancers.

BACKGROUND: The purpose of this study was to evaluate the results of arthroscopic treatment of anterior bony and soft-tissue impingement of the ankle in elite dancers. METHODS: The study is a case series retrospectively reviewed. In the period between 1990 and 1999, 11 elite dancers (12 ankles) had ankle arthroscopy after a diagnosis of anterior ankle impingement that markedly interfered with their dancing. Initial nonoperative treatment failed in all subjects. Previous ankle trauma was noted in all subjects. There were seven women and four men (average age 28 years). Tibiotalar exostoses were radiographically noted in six ankles. Standard anteromedial and anterolateral arthroscopic portals and instrumentation were used for resection of bone spurs and debridement of impinging soft tissues. Patients were nonweightbearing for 5 days after surgery and had postoperative physiotherapy. RESULTS: Nine dancers returned to full dance activity at an average of 7 weeks after surgery. One patient did not return to dance performance because of concurrent unrelated orthopaedic problems, but he resumed work as a dance teacher; he developed a recurrent anterior tibial spur that was successfully resected at a second arthroscopy 9 years later. Another dancer developed postoperative scar-tissue impingement and stiffness; she had a repeat arthroscopy 4 months after the initial procedure and subsequently returned to dance performance. All patients eventually had marked postoperative improvement in pain relief and dance performance. CONCLUSIONS: Arthroscopic debridement is an effective method for the treatment of bony and soft-tissue anterior ankle impingement syndrome in dancers and has minimal morbidity.

Adult↗
PubMedDate not supplied

Anterior tibiotalar impingement syndromes in dancers.

Anterior tibiotalar impingement is caused by extension at the ankle. Repeated impingement causes two symptom-producing and potentially disabling syndromes. The most frequent is impingement exostoses which form on strong feet that offer resistance to impingement. This condition may be compatible with dancing for many years, but if symptoms warrant, surgery is a consideration. The other syndrome is found in young dancers with long, slender, flexible feet. These feet are weak and allow midfoot sag and plantar fascial stretch causing chronic foot strain. Such feet do not tolerate dancing without extensive retraining and surgery is of no help.

Dancing↗
PubMed2004

Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation.

Heparan sulfate proteoglycans (HSPG) have been implicated in regulating the signalling activities of secreted morphogen molecules including Wingless (Wg), Hedgehog (Hh) and Decapentaplegic (Dpp). HSPG consists of a protein core to which heparan sulfate (HS) glycosaminoglycan (GAG) chains are attached. The formation of HS GAG chains is catalyzed by glycosyltransferases encoded by members of the EXT family of putative tumor suppressors linked to hereditary multiple exostoses. Previous studies in Drosophila demonstrated that tout-velu (ttv), the Drosophila EXT1, is required for Hh movement. However, the functions of other EXT family members are unknown. We have identified and isolated the other two members of the Drosophila EXT family genes, which are named sister of tout-velu (sotv) and brother of tout-velu (botv), and encode Drosophila homologues of vertebrate EXT2 and EXT-like 3 (EXTL3), respectively. We show that both Hh and Dpp signalling activities, as well as their morphogen distributions, are defective in cells mutant for ttv, sotv or botv in the wing disc. Surprisingly, although Wg morphogen distribution is abnormal in ttv, sotv and botv, Wg signalling is only defective in botv mutants or ttv-sotv double mutants, and not in ttv nor sotv alone, suggesting that Ttv and Sotv are redundant in Wg signalling. We demonstrate further that Ttv and Sotv form a complex and are co-localized in vivo. Our results, along with previous studies on Ttv, provide evidence that all three Drosophila EXT proteins are required for the biosynthesis of HSPGs, and for the gradient formation of the Wg, Hh and Dpp morphogens. Our results also suggest that HSPGs have two distinct roles in Wg morphogen distribution and signalling.

Amino Acid Sequence↗
PubMed2004

Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways.

Studies in Drosophila and vertebrate systems have demonstrated that heparan sulfate proteoglycans (HSPGs) play crucial roles in modulating growth factor signaling. We have isolated mutations in sister of tout velu (sotv), a gene that encodes a co-polymerase that synthesizes HSPG glycosaminoglycan (GAG) chains. Our phenotypic and biochemical analyses reveal that HS levels are dramatically reduced in the absence of Sotv or its partner co-polymerase Tout velu (Ttv), suggesting that both copolymerases are essential for GAG synthesis. Furthermore, we find that mutations in sotv and ttv impair Hh, Wg and Decapentaplegic (Dpp) signaling. This contrasts with previous studies that suggested loss of ttv compromises only Hh signaling. Our results may contribute to understanding the biological basis of hereditary multiple exostoses (HME), a disease associated with bone overgrowth that results from mutations in EXT1 and EXT2, the human orthologs of ttv and sotv.

Amino Acid Sequence↗
PubMed1976

Temporal bone histopathology in experimental hypovitaminosis A.

Twenty-five years ago hearing loss was observed in some subjects during a comprehensive study of the effects of hypovitaminosis A on human volunteers. Experimental studies documenting histopathological changes in the temporal bone due to hypovitaminosis A are conflicting. Even the recent textbooks of otolaryngology and physiology make no mention of a role of vitamin A in the ear. To explore the role of vitamin A in the ear adult and weanling rats maintained on a diet totally lacking vitamin A were sacrificed at intervals. Their temporal bones were examined with the light microscope. After six weeks on a vitamin A free diet weanling rats showed hypertrophy of the periostial portions of the otic capsule. At 16 weeks a narrowing of the internal auditory canal due to bony exostoses was present. The neuroepithelia of the cochlea and the vestibular apparatus were histologically normal even in the longest surfiving animals. Adult rats maintained on a vitamin A free diet showed minimal thickening of the bone adjacent to the internal auditory meatus. The cochlea and the vestibular appartus in these animals remained normal throughout the 28-week experiment. Although we have demonstrated marked abnormalities of the otic capsule in hypovitaminosis A, our results do not support those of some earlier investigators who reported that atrophy of the cochlear and vestibular neuroepithelium occurred in the absence of dietary vitamin A.

Age Factors↗
PubMed1994

Iatrogenic facial nerve injury during otologic surgery.

Perhaps the most devastating complication in otologic surgery is that of inadvertent injury to the facial nerve. A review of 22 patients who had sustained an iatrogenic facial nerve injury was conducted. Although the most common procedure being performed during the injury was mastoidectomy (55%), a surprising number of patients had injury during tympanoplasty (14%) or during removal of exostoses (14%). The most common area of injury to the facial nerve in this series was in the tympanic segment. In 79% of the patients, the facial nerve injury was not detected at the time of surgery. All patients underwent surgical exploration of the facial nerve. Otologic surgeons are cautioned to be familiar with the normal course of the facial nerve and to be aware of the potential for facial nerve injury when performing transcanal surgery.

Adolescent↗
PubMed1984

The long-term results of Watson-Jones tenodesis.

Nine patients have been reviewed at an average period of 22 years after a Watson-Jones tenodesis performed for chronic instability of the ankle. Only three patients had complete relief of symptoms. Two favourable early results deteriorated 7 and 10 years after operation. Radiographic examination revealed full correction of both anterior and lateral instability of the talus in only two cases. Talar tilt was controlled more successfully than increased anterior drawer movement. Long-standing instability was associated with the formation of marginal exostoses, the severity of which appeared proportional to the degree of instability.

Adult↗
PubMed2002

Craniofacial and dental manifestations of Proteus syndrome: a case report.

The Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face. Common manifestations include partial gigantism, congenital lipomas, and plantar hyperplasia. In this report we describe the craniofacial clinicopathological development in a girl with Proteus syndrome from age 6 to 20 years. The patient had pronounced hemifacial hypertrophy, exostoses in the left parietal region, and enlargement of the inferior alveolar nerve and mandibular canal in the affected region. The dental development of the affected left mandible and maxilla was characterized by extremely premature development and eruption of the primary and permanent teeth and by pronounced idiopathic root resorptions. The multidisciplinary management of the patient and the treatment outcome is reported. A review of the Proteus patients in the literature who exhibited manifestation in the craniofacial region is presented.

Adolescent↗
PubMed1996

Diaphyseal aclasis with spinal cord compression. Report of two cases and review of the literature.

In diaphyseal aclasis, the exostoses usually involve long bones, although occasionally the spine is also affected. Very few cases of osteochondroma causing spinal cord compression have been cited. The authors report their experience with two cases of diaphyseal aclasis. In the first case spinal cord compression caused by an exostosis of the lamina of C-2 occurred in a 9-year-old boy; in the second case a large osteochondroma of C-5 occurred in a 45- year-old man. Also included in this report is a review of the literature highlighting the incidence of diaphyseal aclasis, its clinical features and its excellent prognosis in treated cases.

Cervical Vertebrae↗
PubMedDate not supplied

Resolution of lameness associated with Scottish fold osteodystrophy following bilateral ostectomies and pantarsal arthrodeses: a case report.

Bilateral hind-limb lameness, associated with tarsal exostoses in a Scottish fold diagnosed as having Scottish fold osteodystrophy, resolved following staged bilateral ostectomies and pantarsal arthrodeses. Degenerative changes in the phalangeal joints of the hind limbs have progressed radiographically, but lameness has not recurred 48 weeks following the second arthrodesis. Additional skeletal abnormalities were detected radiographically in both carpi and in several caudal vertebrae. A partial, left-sided conduction deafness was diagnosed by evaluating brain stem auditory-evoked responses.

Animals↗