Diaphyseal Aclasis

Diaphyseal Aclasis

Article
Bone, Muscle, & Joint
Cancer & Benign Tumors
+1
Contributed byMaulik P. Purohit MD MPHMar 25, 2018

The topic Diaphyseal Aclasis you are seeking is a synonym, or alternative name, or is closely related to the medical condition Hereditary Multiple Exostoses.

Quick Summary:

  • Hereditary Multiple Exostoses (HME) is a familial condition that causes the development of numerous bone tumors at various locations in the body; any bone in the body may be affected by HME. These bony tumors are called ‘exostoses’
  • Most individuals start developing these benign tumors when they reach the age of 12 years. These tumors usually occur during the growth phase of one’s life. As one becomes an adult, the growth of new tumors do not occur
  • A majority of the cases are caused by genetic mutation involving the EXT1 and EXT2 genes. HME may be inherited as an autosomal dominant trait
  • The signs and symptoms of Hereditary Multiple Exostoses include bone abnormalities and associated defects, such as uneven limbs, joint movement restriction, etc. It is estimated that around or less than 5% of the individuals with HME develop malignancy
  • Defects in the bone may be corrected through physiotherapy, the use of prosthetics, and surgical intervention, depending upon the severity of the condition
  • Most individuals with mild Hereditary Multiple Exostoses can lead relatively normal lives. However, the prognosis depends upon the number of bone tumors, its location, and whether the benign tumors have turned malignant

Please find comprehensive information on Hereditary Multiple Exostoses regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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