Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects.

Shapiro, Francine; Simon, Samantha; Glimcher, M J

doi:10.2106/00004623-197961060-00003

Cited by 238 publications

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“…There was a slight predominance of females (55%) in our representative survey, in contrast to older studies indicating a higher prevalence of males 3,15,16 . More recent studies found no evidence of sex predominance 1,2,6,17 .…”

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“…These usually occur at the metaphysis of long bones, but all bone formed without membranes may be involved. Pain is the most frequent indication for surgery and may be caused by bursitis, tendinitis, and compression of nerves or vessels [1][2][3][4] . Osteochondromas can also cause limb-length discrepancies, skeletal deformities, limited joint motion, and axial deviation 2,3 .…”

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“…Pain is the most frequent indication for surgery and may be caused by bursitis, tendinitis, and compression of nerves or vessels [1][2][3][4] . Osteochondromas can also cause limb-length discrepancies, skeletal deformities, limited joint motion, and axial deviation 2,3 . In adults, there is a risk of malignant transformation of osteochondroma to chondrosarcoma, with an estimated prevalence of 1% to 5% 1,2 .…”

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Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands

Goud

Lange²,

Scholtes

et al. 2012

Journal of Bone and Joint Surgery

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Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands

Goud

Lange²,

Scholtes

et al. 2012

Journal of Bone and Joint Surgery

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“…Although lesions are typically asymptomatic, mechanical signs of volume increase leading to bursal inflammation and pain, significant cosmetic deformity, compression on vital neurovascular structures, as well as concern of malignant degeneration have led some to advocate the excision of these lesions in certain cases [2][3][4][5][6]. Bony deformity, decreased hip range of motion, and gross acetabular dysplasia are characteristic of lesions in multiple hereditary exostosis [7][8][9][10][11]. Solitary exostoses of the proximal femur are documented in cases involving trochanteric bursitis, external snapping of the hip, and sciatic nerve compression.…”

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Isolated Osteochondroma of the Femoral Neck Presenting as Hip and Leg Pain - A Case Study

Muzaffar¹,

Bashir²,

Baba³

et al. 2012

Ortopedia, traumatologia, rehabilitacja

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SUMMARYOsteochondromas, or exostoses, are overwhelmingly found as isolated lesions although they can be present within the context of multiple hereditary exostosis. Increased exostotic load associated with multiple hereditary exostosis can lead to limb-length discrepancy, increased femoral anteversion, valgus angulation, and acetabular dysplasia. Solitary osteochondromas have been linked with bursal inflammation and pain, compression on neurovascular structures, and malignant degeneration, groin and lower extremity pain. Isolated exostosis involving the femoral neck is a rare entity which is often diagnosed late when the patient is being investigated for other problems. We present a young female with a history of hip pain for 3 years with restriction of movements around the hip joint and radicular pain which turned out to be a solitary osteochondroma of the femoral neck. Surgical excision relieved the symptoms.

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“…The number of osteochondromas may vary significantly within and between families, the mean number of locations is 15-18 [6]. In addition, in MO patients a variety of orthopaedic deformities can be found like deformities of the forearm (shortening of the ulna with secondary bowing of radius) (39-60%) [4,6,7] ( Figure 2C), inequality in limb length (10-50%) [4,7], varus or valgus angulation of the knee (8-33%) [4,7], deformity of the ankle (2-54%) [4,7] and disproportionate short stature (37-44%) [2,5,6].…”

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confidence: 99%

Multiple Osteochondromas

Encyclopedia of Cancer

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Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1). Osteochondromas develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. They are pedunculated or sessile (broad base) and can vary widely in size. The number of osteochondromas may vary significantly within and between families, the mean number of locations is 15-18. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The facial bones are not affected. Osteochondromas may cause pain, functional problems and deformities, especially of the forearm, that may be reason for surgical removal. The most important complication is malignant transformation of osteochondroma towards secondary peripheral chondrosarcoma, which is estimated to occur in 0.5-5%. MO is an autosomal dominant disorder and is genetically heterogeneous. In almost 90% of MO patients germline mutations in the tumour suppressor genes EXT1 or EXT2 are found. The EXT genes encode glycosyltransferases, catalyzing heparan sulphate polymerization. The diagnosis is based on radiological and clinical documentation, supplemented with, if available, histological evaluation of osteochondromas. If the exact mutation is known antenatal diagnosis is technically possible. MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease. Osteochondromas are benign lesions and do not affect life expectancy. Management includes removal of osteochondromas when they give complaints. Removed osteochondromas should be examined for malignant transformation towards secondary peripheral chondrosarcoma. Patients should be well instructed and regular follow-up for early detection of malignancy seems justified. For secondary peripheral chondrosarcoma, en-bloc resection of the lesion and its pseudocapsule with tumour-free margins, preferably in a bone tumour referral centre, should be performed.

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Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects.

Cited by 238 publications

References 0 publications

Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands

Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands

Isolated Osteochondroma of the Femoral Neck Presenting as Hip and Leg Pain - A Case Study

Multiple Osteochondromas

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