Overview of the scientific sessions of the conference.
Genetics of MHE / MO / HME.
Presenting study results, Hereditary Multiple Exostoses and Pain
Orthopaedics’ of MHE / MO / HME.
Use of fixators, MHE / MO / HME
Harish Hosalkar,#; John P. Dormans,+
Abstract of MHE Conference Workshop Orthopaedics
#Orthopaedic Resident, The Children’s Hospital of Philadelphia
+Chief of Orthopaedic Surgery, The Children’s Hospital of Philadelphia
Professor of Orthopaedic Surgery, University of Pennsylvania School of Medicine
Multiple hereditary exostosis (MHE) is an inherited disease causing the development of numerous cartilaginous exostoses
throughout the skeleton.
It is most commonly inherited as an autosomal dominant loss of function mutation of either the EXT1 or EXT2 genes with
almost complete penetrance. Common problems for children with MHE are pain and tenderness due to compression of tendons
and nerves by the exostoses, skeletal deformity due to altered growth of long bones, cosmetic concerns, and rarely ischemic
complication due to compression of vascular structures. As a result, most children with MHE will undergo several procedures for
removal of painful or deforming lesions.
Orthopaedics of MHE / MO / HME everything you need to know is a patient and parent-friendly guides that outlines the common
skeletal manifestations of MHE. This extensive review addresses the diagnostic tools including important features on clinical
exam, characterization of lesions, diagnostic work up including imaging features and histology. We have attempted to outline
the established patterns of involvement of MHE in various parts of the body i.e. mainly the skeletal system and their possible
treatment options.
A specific note is made in each subsection regarding what the parents should watch out for.
Finally a glossary of procedures and terminology is presented.
Abstract of MHE Conference Workshop Orthopaedics
#Orthopaedic Resident, The Children’s Hospital of Philadelphia
+Chief of Orthopaedic Surgery, The Children’s Hospital of Philadelphia
Professor of Orthopaedic Surgery, University of Pennsylvania School of Medicine
Multiple hereditary exostosis (MHE) is an inherited disease causing the development of numerous cartilaginous exostoses
throughout the skeleton.
It is most commonly inherited as an autosomal dominant loss of function mutation of either the EXT1 or EXT2 genes with
almost complete penetrance. Common problems for children with MHE are pain and tenderness due to compression of tendons
and nerves by the exostoses, skeletal deformity due to altered growth of long bones, cosmetic concerns, and rarely ischemic
complication due to compression of vascular structures. As a result, most children with MHE will undergo several procedures for
removal of painful or deforming lesions.
Orthopaedics of MHE / MO / HME everything you need to know is a patient and parent-friendly guides that outlines the common
skeletal manifestations of MHE. This extensive review addresses the diagnostic tools including important features on clinical
exam, characterization of lesions, diagnostic work up including imaging features and histology. We have attempted to outline
the established patterns of involvement of MHE in various parts of the body i.e. mainly the skeletal system and their possible
treatment options.
A specific note is made in each subsection regarding what the parents should watch out for.
Finally a glossary of procedures and terminology is presented.
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Chronic pain and the need for treatment.
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Click here to verify.# HON Conduct 282463 and is the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov)
website, also linked for Patient Information on The Diseases Database a cross-referenced index of human disease, as well as the
Intute: health & life sciences a free online service providing access to the very best Web resources for education and research located in the UK
Click here to verify.# HON Conduct 282463 and is the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov)
website, also linked for Patient Information on The Diseases Database a cross-referenced index of human disease, as well as the
Intute: health & life sciences a free online service providing access to the very best Web resources for education and research located in the UK
The MHE Research Foundation is proud to be working with the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
studying the pathology and genetics of bone tumors.
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