Open main menu
Home
Random
Recent changes
Special pages
Community portal
Preferences
About Wikipedia
Disclaimers
Incubator escapee wiki
Search
User menu
Talk
Dark mode
Contributions
Create account
Log in
Editing
Hereditary multiple exostoses
(section)
Warning:
You are not logged in. Your IP address will be publicly visible if you make any edits. If you
log in
or
create an account
, your edits will be attributed to your username, along with other benefits.
Anti-spam check. Do
not
fill this in!
==Pathophysiology== It is characterized by the growth of cartilage-capped benign [[bone tumour]]s around areas of active bone growth, particularly the [[metaphysis]] of the long bones. Typically five or six exostoses are found in upper and lower limbs. Image depicts adult regrowth after knee replacement. [[File:MHE example of regrowth after age 70.png|thumb|Skeleton of 92-year-old woman with MHE who had knee replacements at age 70. See FIRS [[Body farm#Colorado Mesa University|Colorado Mesa University]].]] Most common locations are:<ref name=turek>{{cite book | vauthors = | chapter = Chapter 9: Idiopathic and Heritable Disorders: Defects in Tumor Suppressor Genes: Hereditary Multiple Exostoses | veditors = Buckwalter JA, Weinstein SL |title=Turek's orthopaedics principles and their application |year=2005 |publisher=Lippincott Williams & Wilkins |location=Philadelphia |isbn=9780781742986 |pages=263 |edition=6th}}</ref> * [[Anatomical terms of location#Proximal and distal|Distal]] [[femur]] (70%) * [[Anatomical terms of location#Proximal and distal|Proximal]] [[tibia]] (70%) * [[Humerus]] (50%) * Proximal [[fibula]] (30%) HME can lead to the shortening and bowing of bones; affected individuals often have a short stature. Depending on their location the exostoses can cause problems including: pain or numbness from nerve compression, vascular compromise, inequality of limb length, irritation of tendon and muscle, [[Madelung's deformity]]<ref name=who>{{cite book | vauthors = Davies AM, Pettersson H | veditors = Pettersson H, Ostensen H |year=2002 |title=Radiography of the Musculoskeletal System |publisher=World Health Organization |location=Geneva |isbn=978-92-4-154555-6 |pages=177, 189 |url=http://whqlibdoc.who.int/publications/2002/9241545550_eng.pdf | archive-url = https://web.archive.org/web/20140211092822/http://whqlibdoc.who.int/publications/2002/9241545550_eng.pdf | archive-date = 11 February 2014 }}</ref> as well as a limited range of motion at the joints upon which they encroach. A person with HME has an increased risk of developing a rare form of bone cancer called [[chondrosarcoma]] as an adult.<ref name=who /> Problems may be had in later life and these could include weak bones and nerve damage.<ref name="pmid14349947">{{cite journal | vauthors = Cannon JF | title = Hereditary multiple exostoses | journal = American Journal of Human Genetics | volume = 6 | issue = 4 | pages = 419–425 | date = December 1954 | pmid = 14349947 | pmc = 1716573 }}</ref><ref name="pmid3046271">{{cite journal | vauthors = McBride WZ | title = Hereditary multiple exostoses | journal = American Family Physician | volume = 38 | issue = 3 | pages = 191–192 | date = September 1988 | pmid = 3046271 }}</ref><ref name="pmid8027127">{{cite journal | vauthors = Schmale GA, Conrad EU, Raskind WH | title = The natural history of hereditary multiple exostoses | journal = The Journal of Bone and Joint Surgery. American Volume | volume = 76 | issue = 7 | pages = 986–992 | date = July 1994 | pmid = 8027127 | doi = 10.2106/00004623-199407000-00005 | url = http://www.jbjs.org/cgi/pmidlookup?view=long&pmid=8027127 | url-status = dead | archive-url = https://archive.today/20140920144109/http://www.jbjs.org/cgi/pmidlookup?view=long&pmid=8027127 | archive-date = 2014-09-20 | url-access = subscription }}</ref> The reported rate of transformation ranges from as low as 0.57%<ref name="pmid9272707">{{cite journal | vauthors = Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M | title = Incomplete penetrance and expressivity skewing in hereditary multiple exostoses | journal = Clinical Genetics | volume = 52 | issue = 1 | pages = 12–16 | date = July 1997 | pmid = 9272707 | doi = 10.1111/j.1399-0004.1997.tb02508.x | s2cid = 44423092 }}</ref> to as high as 8.3% of people with HME.<ref name="pmid10755438">{{cite journal | vauthors = Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T | title = Chondrosarcoma in a family with multiple hereditary exostoses | journal = The Journal of Bone and Joint Surgery. British Volume | volume = 82 | issue = 2 | pages = 261–266 | date = March 2000 | pmid = 10755438 | doi = 10.1302/0301-620X.82B2.0820261 | doi-access = free }}</ref> Some authors have described an association between HME and the presence of popliteal pseudoaneurysms.<ref name="pmid34815824">{{cite journal | vauthors = Duarte OA, Neira JG, Herazo VD, Lara MF, Polanco AL, Omaña AF, Ortiz AF | title = Popliteal artery pseudoaneurysm caused by non-penetrating trauma in a patient with hereditary multiple osteochondromatosis | journal = Radiology Case Reports | volume = 17 | issue = 1 | pages = 185–189 | date = January 2022 | pmid = 34815824 | pmc = 8593258 | doi = 10.1016/j.radcr.2021.10.025 }}</ref>
Edit summary
(Briefly describe your changes)
By publishing changes, you agree to the
Terms of Use
, and you irrevocably agree to release your contribution under the
CC BY-SA 4.0 License
and the
GFDL
. You agree that a hyperlink or URL is sufficient attribution under the Creative Commons license.
Cancel
Editing help
(opens in new window)