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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary multiple osteochondromas


Other Names for this Disease
  • HMO
  • Hereditary multiple exostoses
  • Hereditary multiple exostosis
  • Multiple exostoses
  • Bessel-Hagen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for hereditary multiple osteochondromas?

GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here.  To view the contact information for the clinical laboratories conducting testing for the EXT2 gene, click here.

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 6/1/2011

How might malignant transformation in hereditary multiple exostoses (HME) be diagnosed?

Surface irregularities and unorganized chalk deposits with light areas in the middle of the tumor and cartilage cap may be seen on a bone scan, ultrasound or preferably an MRI. However the diagnosis of chondrosarcoma can only be confirmed by a bone biopsy.[1]
Last updated: 12/31/2015

What are the signs and symptoms of malignant transformation in hereditary multiple exostoses (HME)?

A doctor may become suspicious of a malignant transformation if there is an increase in the size of the tumor in adults when bone growth is already complete. In addition, cancer should be suspected if the thickness of the cartilaginous cap of the osteochondroma is over 1-2 centimeters (normally, after bone growth is complete, the cap is only a few millimeters thick).[1]

Other signs of a malignant transformation may include bone pain, temporary loss of sensory or motor function due to compression of a nerve (neurapraxia) or pressure related symptoms in nearby organs.[1]
Last updated: 12/31/2015

Is screening recommended for malignant transformation in hereditary multiple exostoses (HME)?

At present, medical researchers agree that more studies need to be performed to determine the best screening protocols for those with HME, including the study of benefit/cost/risk.[2]

However a compelling study was published in 2014 by Czajka and DiCaprio which compares the screening of malignant transformation in people with HME to the screening of breast and cervical cancer in women.[1] The authors conclude that screening should be offered to individuals with HME over the age of 16 (or when bone growth has been completed). They propose screening should include a thorough clinical examination and a full body MRI every two years. If an MRI is not possible than a bone scan be performed, followed by an ultrasound of the cartilage cap of any suspicious findings.[1]

The Czajka and DiCaprio further recommend that individuals with HME should be made aware of warning signs of malignant transformation and taught self examination techniques.[1]
Last updated: 12/31/2015

References
  1. Czajka CM & DiCaprio MR. What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration. Clin Orthop Relat Res. July 2015; 473(7):2344-61. http://www.ncbi.nlm.nih.gov/pubmed/25582066. Accessed 12/31/2015.
  2. Wuyts W, Schmale GA, Chansky HA & Raskind WH. Hereditary Multiple Osteochondromas. GeneReveiws. November 2013; http://www.ncbi.nlm.nih.gov/pubmed/22258776. Accessed 12/31/2015.


Other Names for this Disease
  • HMO
  • Hereditary multiple exostoses
  • Hereditary multiple exostosis
  • Multiple exostoses
  • Bessel-Hagen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.