BACKGROUND Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones.Chest wall lesions may represent a challenge,particularly in p...BACKGROUND Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones.Chest wall lesions may represent a challenge,particularly in pediatric patients.Pain is a common manifestation.However,life-threatening complications can result from direct involvement of adjacent structures.Surgical resection with appropriate reconstruction is often required.CASE SUMMARY A 5-year-old male who was diagnosed with hereditary multiple exostoses presented with significant pain from a large growing chest wall exostosis lesion.After appropriate preoperative investigations,he underwent surgical resection with reconstruction of his chest wall using a biologic bovine dermal matrix mesh.CONCLUSION Resection of chest wall lesions in children represents a challenge.Preoperative planning to determine the appropriate reconstruction strategy is essential.展开更多
Hereditary multiple exostoses（HME） are an autosomal dominant skeletal disease with wide variations in clinical manifestations among different ethnic groups. This study investigated the epidemiology, clinical present...Hereditary multiple exostoses（HME） are an autosomal dominant skeletal disease with wide variations in clinical manifestations among different ethnic groups. This study investigated the epidemiology, clinical presentations, pathogenetic features and treatment strategies of HME in China's Mainland. We searched and reviewed the related cases published since 1990 by searching electronic databases, namely SinoMed database, Wanfang database, CNKI, Web of Science and PubMed as well as Google search engines. A total of 1051 cases of HME（male-to-female ratio 1.5：1） were investigated and the diagnosis was made in 83% before the age of 10 years. Approximately 96% patients had a family history. Long bones, ribs, scapula and pelvis were the frequently affected sites. Most patients were asymptomatic with multiple palpable masses. Common complications included angular deformities, impingement on neighbouring tissues and impaired articular function. Chondrosarcomas transformation occurred in 2% Chinese cases. Among the cases examined, about 18% had mutations in EXT1 and 28% in EXT2. Frameshift, nonsense and missense mutations represented the majority of HME-causing mutations. Diagnosis of HME was made based on the clinical presentations and radiological documentations. Most patients needed no treatment. Surgical treatment was often directed to remove symptomatic exostoses, particularly those of suspected malignancy degeneration, and correction of skeletal deformities. This study shows some variance from current literature regarding other ethnic populations and may provide valuable baseline assessment of the natural history of HME in China's Mainland.展开更多
The aim of this paper is to report an exceptional case of multiple internal exostoses of the ribs in a young patient affected by multiple hereditary exostoses(MHE) coming to our observation for chest pain as the only ...The aim of this paper is to report an exceptional case of multiple internal exostoses of the ribs in a young patient affected by multiple hereditary exostoses(MHE) coming to our observation for chest pain as the only symptom of an intra-thoracic localization. A 16 years old patient with familiar history of MHE came to our observation complaining a left-sided chest pain. This pain had increased in the last months with no correlation to a traumatic event. The computed tomography(CT) scan revealed the presence of three exostoses located on the left third, fourth and sixth ribs, all protruding into the thoracic cavity, directly in contact with visceral pleura. Moreover, the apex of the one located on the sixth rib revealed to be only 12 mm away from pericardium. Patient underwent video-assisted thoracoscopy with an additional 4-cm mini toracotomy approach. At the last 1-year followup, patient was very satisfied and no signs of recurrence or major complication had occured. In conclusion, chest pain could be the only symptom of an intra-thoracic exostoses localization, possibly leading to serious complications. Thoracic localization in MHE must be suspected when patients complain chest pain. A chest CT scan is indicated to confirm exostoses and to clarify relationship with surrounding structures. Video-assisted thoracoscopic surgery can be considered a valuable option for exostoses removal, alone or in addiction to a mini-thoracotomy approach, in order to reduce thoracotomy morbidity.展开更多
BACKGROUND Multiple exostoses generally develop in the first decade of life.They most frequently arise from the distal femur,proximal tibia,fibula,and proximal humerus.Costal exostoses are rare,contributing to 1%-2% o...BACKGROUND Multiple exostoses generally develop in the first decade of life.They most frequently arise from the distal femur,proximal tibia,fibula,and proximal humerus.Costal exostoses are rare,contributing to 1%-2% of all exostoses in hereditary multiple exostoses(HME).They are usually asymptomatic,but a few cases have resulted in severe thoracic injuries.Pneumothorax caused by costal exostoses is rare,with only 13 previously reported cases.We report a new case of pneumothorax caused by costal exostoses.CASE SUMMARY A 17-year-old male with HME underwent surgery for removal of exostoses around his right knee.Four months following the operation,he felt chest pain when he was playing the trumpet;however,he did not stop playing for a week.He was referred to our hospital with a chief complaint of chest pain.The computed tomography(CT)scan revealed right pneumothorax and multiple exostoses in his right ribs.The CT scan also revealed visceral pleura thickness and damaged lung tissues facing the exostosis of the seventh rib.We diagnosed that exostosis of the seventh rib induced pneumothorax.Costal exostosis resection was performed by video-assisted thoracoscopic surgery(VATS)2 wk after the onset.The patient’s postoperative course was uneventful,and there was no recurrence of pneumothorax for 2 years.CONCLUSION Costal exostoses causing thoracic injuries should be resected regardless of age.VATS must be considered in cases with apparently benign and relatively small exostoses or HME.展开更多
Ear canal exostoses are bilateral, usually symmetric multiple bony growths occurring in the medial portion of the external auditory canal. Also known as surfer's ear, exostosis is thought to be a reactive process ...Ear canal exostoses are bilateral, usually symmetric multiple bony growths occurring in the medial portion of the external auditory canal. Also known as surfer's ear, exostosis is thought to be a reactive process from repeated stimulation by cold water and is much more common than external auditory osteoma. Exostoses are usually asymptomatic and discovered on routine otoscopy. Indications for surgical treatment are recurrent otitis externa, hearing loss, otalgia and other conditions in which access medial to the exostoses is required. Surgery is not risk-free and postoperative complications are the most important factor for negative impact on the patient's health-related quality of life. Thisreview offers an overview of the recent advances in the understanding of this condition, with a special focus on the etiology and physiopathology of this condition, the different surgical procedures and their outcomes, the risk factors for recurrence and the results of preventive measures. Finally, this review suggests the need for the otological surgeon to acquire a great deal of experience before undertaking surgical treatment of exostoses as it is a challenging operation and, besides expertise, demands great patience and extreme care in order to achieve good results.展开更多
文摘BACKGROUND Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones.Chest wall lesions may represent a challenge,particularly in pediatric patients.Pain is a common manifestation.However,life-threatening complications can result from direct involvement of adjacent structures.Surgical resection with appropriate reconstruction is often required.CASE SUMMARY A 5-year-old male who was diagnosed with hereditary multiple exostoses presented with significant pain from a large growing chest wall exostosis lesion.After appropriate preoperative investigations,he underwent surgical resection with reconstruction of his chest wall using a biologic bovine dermal matrix mesh.CONCLUSION Resection of chest wall lesions in children represents a challenge.Preoperative planning to determine the appropriate reconstruction strategy is essential.
基金supported by the National Natural Science Foundation of China(No.81070067)
文摘Hereditary multiple exostoses（HME） are an autosomal dominant skeletal disease with wide variations in clinical manifestations among different ethnic groups. This study investigated the epidemiology, clinical presentations, pathogenetic features and treatment strategies of HME in China's Mainland. We searched and reviewed the related cases published since 1990 by searching electronic databases, namely SinoMed database, Wanfang database, CNKI, Web of Science and PubMed as well as Google search engines. A total of 1051 cases of HME（male-to-female ratio 1.5：1） were investigated and the diagnosis was made in 83% before the age of 10 years. Approximately 96% patients had a family history. Long bones, ribs, scapula and pelvis were the frequently affected sites. Most patients were asymptomatic with multiple palpable masses. Common complications included angular deformities, impingement on neighbouring tissues and impaired articular function. Chondrosarcomas transformation occurred in 2% Chinese cases. Among the cases examined, about 18% had mutations in EXT1 and 28% in EXT2. Frameshift, nonsense and missense mutations represented the majority of HME-causing mutations. Diagnosis of HME was made based on the clinical presentations and radiological documentations. Most patients needed no treatment. Surgical treatment was often directed to remove symptomatic exostoses, particularly those of suspected malignancy degeneration, and correction of skeletal deformities. This study shows some variance from current literature regarding other ethnic populations and may provide valuable baseline assessment of the natural history of HME in China's Mainland.
文摘The aim of this paper is to report an exceptional case of multiple internal exostoses of the ribs in a young patient affected by multiple hereditary exostoses(MHE) coming to our observation for chest pain as the only symptom of an intra-thoracic localization. A 16 years old patient with familiar history of MHE came to our observation complaining a left-sided chest pain. This pain had increased in the last months with no correlation to a traumatic event. The computed tomography(CT) scan revealed the presence of three exostoses located on the left third, fourth and sixth ribs, all protruding into the thoracic cavity, directly in contact with visceral pleura. Moreover, the apex of the one located on the sixth rib revealed to be only 12 mm away from pericardium. Patient underwent video-assisted thoracoscopy with an additional 4-cm mini toracotomy approach. At the last 1-year followup, patient was very satisfied and no signs of recurrence or major complication had occured. In conclusion, chest pain could be the only symptom of an intra-thoracic exostoses localization, possibly leading to serious complications. Thoracic localization in MHE must be suspected when patients complain chest pain. A chest CT scan is indicated to confirm exostoses and to clarify relationship with surrounding structures. Video-assisted thoracoscopic surgery can be considered a valuable option for exostoses removal, alone or in addiction to a mini-thoracotomy approach, in order to reduce thoracotomy morbidity.
文摘BACKGROUND Multiple exostoses generally develop in the first decade of life.They most frequently arise from the distal femur,proximal tibia,fibula,and proximal humerus.Costal exostoses are rare,contributing to 1%-2% of all exostoses in hereditary multiple exostoses(HME).They are usually asymptomatic,but a few cases have resulted in severe thoracic injuries.Pneumothorax caused by costal exostoses is rare,with only 13 previously reported cases.We report a new case of pneumothorax caused by costal exostoses.CASE SUMMARY A 17-year-old male with HME underwent surgery for removal of exostoses around his right knee.Four months following the operation,he felt chest pain when he was playing the trumpet;however,he did not stop playing for a week.He was referred to our hospital with a chief complaint of chest pain.The computed tomography(CT)scan revealed right pneumothorax and multiple exostoses in his right ribs.The CT scan also revealed visceral pleura thickness and damaged lung tissues facing the exostosis of the seventh rib.We diagnosed that exostosis of the seventh rib induced pneumothorax.Costal exostosis resection was performed by video-assisted thoracoscopic surgery(VATS)2 wk after the onset.The patient’s postoperative course was uneventful,and there was no recurrence of pneumothorax for 2 years.CONCLUSION Costal exostoses causing thoracic injuries should be resected regardless of age.VATS must be considered in cases with apparently benign and relatively small exostoses or HME.
文摘Ear canal exostoses are bilateral, usually symmetric multiple bony growths occurring in the medial portion of the external auditory canal. Also known as surfer's ear, exostosis is thought to be a reactive process from repeated stimulation by cold water and is much more common than external auditory osteoma. Exostoses are usually asymptomatic and discovered on routine otoscopy. Indications for surgical treatment are recurrent otitis externa, hearing loss, otalgia and other conditions in which access medial to the exostoses is required. Surgery is not risk-free and postoperative complications are the most important factor for negative impact on the patient's health-related quality of life. Thisreview offers an overview of the recent advances in the understanding of this condition, with a special focus on the etiology and physiopathology of this condition, the different surgical procedures and their outcomes, the risk factors for recurrence and the results of preventive measures. Finally, this review suggests the need for the otological surgeon to acquire a great deal of experience before undertaking surgical treatment of exostoses as it is a challenging operation and, besides expertise, demands great patience and extreme care in order to achieve good results.
