Hereditary multiple exostoses of the ribs as an uncommon. Reproduced with permission from pierz ka, stieber jr, kusumi k, dormans jp. Genotypephenotype correlation study in 529 patients with multiple hereditary exostoses. Hereditary multiple exostoses is a genetic disorder that is inherited in an autosomal dominant pattern. A rare but severe risk in patients with mutiple exostoses is the development of malignant chondrosarcoma, which occurs in 1. Multiple exostoses, also called hereditary multiple osteochondromata, is a relatively rare disorder, thought to arise in around 1 in 50,000 individuals. Hereditary multiple exostosis diahyseal aclasia johns.
The ext1 gene and the ext2 gene provide instructions for producing the proteins exostosin1 and exostosin2, respectively. Loveless, acetabular dysplasia associated with hereditary multiple exostoses. Its many synonyms include multiple osteochondromas mo, multiple hereditary exostoses mhe, ext, multiple hereditary osteochondromas mho and multiple cartilaginous exostoses. Hereditary multiple exostoses hme is a genetic musculoskeletal condition causing multiple exostoses. It affects bone growth and development, causing bony growths known as exostoses to form in the body. Pdf hereditary multiple exostoses with pseudoaneurysm. Hereditary multiple exostosis usually presents in children when they are around 3 or 4 years old. Treatment for hereditary multiple exostosis may include surgery to remove the bony growths if they are causing the child pain or discomfort. Exostoses that affect almost every bone in the body were first mentioned by. Hereditary multiple exostoses hme is an autosomal dominant disorder in which multiple exostoses, or osteochondromas, form. Hereditary multiple exostosis ext is an autosomal dominant disorder in which the clinical hallmark is the growth of bony protuberances from long bones and which can cause a variety of orthopedic deformities. Hereditary multiple exostoses is a rare pediatric disorder characterized by growth plateassociated osteochondromas that cause a number of health problems. Multiple hereditary exostoses mhe, also known as multiple osteochondromas mo, is an autosomal dominant skeletal disorder. The most serious complication is the malignant transformation of osteochondromas into sarcomas.
Hereditary multiple exostoses hme is characterized by growths of multiple exostoses, benign cartilagecapped bone tumors that grow outward from the metaphyses of long bones. While many of these lesions remain clinically asymptomatic, other growth locations can lead to excruciating pain, limit a joints range of motion, and compromise neurovascular structures. They noted that the multiple exostoses of the langergiedion syndrome are indistinguishable from those of the isolated disorder and that at least 1 case of trichorhinophalangeal syndrome without multiple exostoses had been found to have deletion in this region hamers et al. A current understanding of clinical and genetic advances. This study sought to further delineate the natural history of ext. A 16yearold male patient with hereditary multiple exostoses hme was found to have a pseudoaneurysm of the left popliteal artery caused by osteochondroma in the lower femur. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region ofthe long bones. Multiple hereditary exostoses mhe research foundation. Hereditary multiple exostoses hme is a rare genetic disorder where several benign cartilaginous tumors arise from the perichondrium and flank the cartilage growth. Hereditary multiple exostoses is an autosomaldominant condition with full penetrance that results in multiple osteochondromas. Hereditary multiple exostoses is a familial disturbance in the growth of cartilaginous bone tissue, most marked at the diaphysoepiphyseal junction of the long bones. A physical exam and xrays are done to diagnose hereditary multiple exostosis.
Thirty to 60% of hereditary multiple exostoses patients have forearm deformities. Hereditary multiple exostosis treatment johns hopkins. Pdf forearm deformities in hereditary multiple exostosis. The disease presents with various clinical manifestations including chronic. These growths typically develop during childhood and.
Multiple osteocartilaginous exostoses in a monitor lizard. Exostoses can be associated with a reduction in skeletal growth, bony deformity, restricted motion of joints, shortened stature, premature osteoarthrosis, and compression. Manifestations of hereditary multiple exostoses the mhe. Bony tumors exostoses or osteochondromas, covered with cartilage, typically appear in the growth zones metaphyses of the long bones adjacent to the areas where tendon and muscles attach to the bone. Hereditary multiple exostosis is a rare condition in which numerous benign osteochondromas form throughout the body, typically in areas of. A case report of multiple hereditary exostoses in a family. Hereditary multiple exostosis is an intriguing genetic condition with a clinical impact in the field of orthopaedics, paediatrics and oncology. Hereditary multiple exostoses hme mim 3700 and 3701 is an autosomaldominant disorder characterized by multiple benign cartilaginous tumours osteochondromas or exostoses growing outward from the metaphyses of long bones figures 1 and 2. Bony deformity, bowing of the long bones, limited range of motion, and premature osteoarthrosis may be associated with hme. Hereditary multiple exostoses multiple osteochondromas. Buhler and malik 1984 suggested that the mutation of multiple exostoses may be on 8q in the region of 8q24. Hereditary multiple exostosis is a rare condition in which numerous benign osteochondromas form throughout the body, typically in areas of high bone turnover such as the metaphyseal plates of long bones. Duncan, etiological point mutations in the hereditary multiple exostoses gene ext1. Hme is linked to ext mutations and ensuing deficiency in heparan sulfate hs, a component of cell surface and matrix proteoglycans that regulates many fundamental processes.
Individuals with hereditary multiple exostoses hme often develop benign cartilagecapped tumors exostoses at the ends of the long bones or the surface of flat bones. Hereditary multiple exostoses hme is a complex musculoskeletal pediatric disorder characterized by osteochondromas that form next to the growth plates of. Multiple hereditary exostoses mhe is a rare bone disease that is characterized by growths of multiple osteochondromasbenign cartilagecapped bone tumors that grow outward from the growth plates of long bones. Spontaneous pneumothoraces in hereditary multiple exostoses. A rare but severe risk in patients with mutiples exostoses is the development of malignant chondrosarcoma, which in 15% of patients. Exostoses also may cause complications by putting pressure on nearby tissues, nerves or blood vessels. A chest drain was inserted and followup cxr showed complete resolution, allowing discharge 4 days later.
People with hme develop these bony growths on the ends of long bones and also on some flat bones such as the shoulder blade scapula and the pelvis. Hereditary multiple exostoses a tale of 50 years preeti singh and sharmila b mukherjee department of pediatrics, lady hardinge medical college, new delhi, india. The diagnosis was confirmed by ultrasound, magnetic resonance imaging and. A benign chondrogenic lesion derived from aberrant cartilage from the perichondral ring that may take the form of. Children born with multiple hereditary exostoses mhe suffer from abnormal growths on their bones. Minimally invasive total hip arthroplasty in a patient. Hereditary multiple exostoses and enchondromatosis pdf. The disease typically is diagnosed during childhood and requires lifelong monitoring and treatment of painful osteochondromas. Hereditary multiple exostosis is an autosomal dominant disorder man ifested by the presence of multiple osteochondromas. The lesions are caused by separation of a cartilage fragment from the epiphyseal growth plate which herniates through the periosteum surrounding the growth plate. Hereditary multiple osteochondromas hmo, also called hereditary multiple. Until the report of ehrenfried 1 in 1917, mention of this disease was relatively infrequent in the american literature, but since that time numerous cases have been reported 2.
Hereditary multiple osteochondromas is a rare disorder that affects bone growth. Hereditary multiple exostoses hme, also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by. The two exostosin proteins bind together and form a complex found in a cell structure called the golgi apparatus, which modifies newly produced enzymes and other proteins. Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in females. We report a case of pneumothorax in a 32yearold man with a partial leftsided pneumothorax caused by an exostosis of the fourth and fifth ribs. Osteochondromas can be associated with a reduction in skeletal growth, leading to short stature or limb length discrepancy, bony deformity, restricted joint movement, and. Pdf hereditary multiple exostosis is an intriguing genetic condition with a clinical impact in the field of orthopaedics, paediatrics and oncology. Hereditary multiple exostoses hme is a skeletal disorder characterized by the presence of multiple bony protuberances called exostoses, usually arising in the epiphyseal growth plate of bones formed by endochondral ossification.
Hereditary multiple exostoses raoul c mhennekam hereditary multiple exostoses hme is a skeletal disorder which primarily affects enchondral bone during growth. These benign bone tumors are found at the metaphyses of rapidly. Rib location of exostosis can be complicated by thoracic injuries. Tha in patients with hereditary multiple exostoses. Many patients lead active, normal lives, but the condition is often painful and associated with complications that affect stature and mobility.
Hereditary multiple exostoses or hereditary multiple osteochondromas hmos are benign bone tumors. In this disorder, there are genetic mutations in the ext1 and ext2 genes causing hereditary multiple exostoses type 1 and hereditary multiple exostoses type 2 respectively, which is responsible for the production of exostosin proteins. Describe the basic characteristics of multiple hereditary exostoses mhe. Natural history study of hereditary multiple exostoses.
It results in the development of abnormal, benign, bony growths. This longterm retrospective study is the first to compare. Hereditary multiple exostoses hme, also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by multiple osteochondromas that grow near the growth plates of bones such as the ribs, pelvis, vertebrae and especially long bones. Hereditary multiple exostoses hme is an autosomal dominant condition characterized by abnormal growth of long bones mainly affecting the epiphyses. Multiple hereditary exostoses mhe, also known as multiple osteochondromas, is an autosomal dominant disease that results in the development of osteochondromas throughout the body. Elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research kevin b. Anteroposteriorcandlateraldradiographsdemonstrating similar deformities in the left forearm of the same boy. A 40yearold male presenting with hereditary multiple exostosis. Mutations in the ext1 and ext2 genes cause hereditary multiple osteochondromas. Hereditary multiple exostoses definition of hereditary. Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas. These exostotic growths most often arise in the long bones and most often in the metaphyseal regions near the ends of growing. They include coxa valga, acetabular dysplasia, joint subluxation and exostosis around the hip joint1. The following synonyms for multiple heredity exostoses often.
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