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
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
Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by multiple osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In ...Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by multiple osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In Indonesia, HME with nerve compression cases have rarely reported. Presentation of Case: An eleven-year-old female with complaining of left knee joint pain and progressive masses in left lower leg since 6 years ago. This complains followed by numbness and difficulty to dorso flexion motion on left ankle joint since four months ago. Physical examination showed of the bony masses was detected at the left lateral upper third lower leg with measuring about six into eight centimeters. Range of motion of left ankle joint patient had difficult to dorso flexion. X-ray imaging viewed demonstrates multiple exostosis appearance involving distal femoral, proximal fibula, proximal tibia and distal fibula bone. MR Imaging revealed cartilage cap of head fibula is thin less 1.5 cm and the axially specimen showed peroneal nerve compression. The patient underwent left head fibula wide resection. Intraoperative findings peripheral nerve peroneal compression and was decompression. Medical rehabilitation for physiotherapy was advised. The results of the follow-up after 2 years, no pain feels and the patient was able to dorso flexion of left ankle joint and no additional bumps in other areas of the body. These lesions may arise from any bone which was pre-formed in the cartilage. Nerve compression syndromes are the neurological complex symptom caused by the mechanical or dynamic compression of a specific single segment. MRI was excellent demonstration of blood vessels compromise and represents choices with peripheral nerves structures and to measuring cartilage cap thickness for criterion of osteochondromas differentiation and exostotic grade. Complete resection was importance of the cartilaginous cap to prevent recurrence. The decompressing the peroneal nerve that pressured by the masses and vascular problems occured. Conclusion: Hereditary multiple exostosis is an inherited disorder characterized by multiple osteochondromas. It is important to monitor all cases of HME especially if the patient complains of pain or growth of an osteochondroma. The surgical excision, with complete resection of the cartilaginous cap of the tumor, is important in preventing recurrence.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
Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing ...Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing gene. Methods The mutation was detected first by single strand conformational polymorphism(SSCP) of all coding exons of the candidate gene and then by sequencing analysis. Results After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2 bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. Conclusions The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease causing gene of EXT).展开更多
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.
文摘Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by multiple osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In Indonesia, HME with nerve compression cases have rarely reported. Presentation of Case: An eleven-year-old female with complaining of left knee joint pain and progressive masses in left lower leg since 6 years ago. This complains followed by numbness and difficulty to dorso flexion motion on left ankle joint since four months ago. Physical examination showed of the bony masses was detected at the left lateral upper third lower leg with measuring about six into eight centimeters. Range of motion of left ankle joint patient had difficult to dorso flexion. X-ray imaging viewed demonstrates multiple exostosis appearance involving distal femoral, proximal fibula, proximal tibia and distal fibula bone. MR Imaging revealed cartilage cap of head fibula is thin less 1.5 cm and the axially specimen showed peroneal nerve compression. The patient underwent left head fibula wide resection. Intraoperative findings peripheral nerve peroneal compression and was decompression. Medical rehabilitation for physiotherapy was advised. The results of the follow-up after 2 years, no pain feels and the patient was able to dorso flexion of left ankle joint and no additional bumps in other areas of the body. These lesions may arise from any bone which was pre-formed in the cartilage. Nerve compression syndromes are the neurological complex symptom caused by the mechanical or dynamic compression of a specific single segment. MRI was excellent demonstration of blood vessels compromise and represents choices with peripheral nerves structures and to measuring cartilage cap thickness for criterion of osteochondromas differentiation and exostotic grade. Complete resection was importance of the cartilaginous cap to prevent recurrence. The decompressing the peroneal nerve that pressured by the masses and vascular problems occured. Conclusion: Hereditary multiple exostosis is an inherited disorder characterized by multiple osteochondromas. It is important to monitor all cases of HME especially if the patient complains of pain or growth of an osteochondroma. The surgical excision, with complete resection of the cartilaginous cap of the tumor, is important in preventing recurrence.
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Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing gene. Methods The mutation was detected first by single strand conformational polymorphism(SSCP) of all coding exons of the candidate gene and then by sequencing analysis. Results After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2 bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. Conclusions The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease causing gene of EXT).
