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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
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Multiple hereditary exostoses and enchondromatosis.

Anne Grethe Jurik1

  • 1Department of Radiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 35, Entrance C, location C118/ reference point C109, 8200, Aarhus N, Denmark.

Best Practice & Research. Clinical Rheumatology
|April 8, 2020
PubMed
Summary
This summary is machine-generated.

Multiple hereditary exostoses (MHE) and enchondromatosis are rare skeletal disorders causing childhood deformities. Both conditions carry risks of malignant transformation and degenerative joint changes.

Keywords:
ChondrosarcomaDiaphyseal aclasisEnchondromatosisMaffucci syndromeMultiple exostosesOllier diseaseOsteochondromatosis

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Area of Science:

  • Orthopedics
  • Genetics
  • Pediatric Endocrinology

Background:

  • Multiple hereditary exostoses (MHE) and enchondromatosis are rare, multifocal benign bone disorders.
  • These conditions typically manifest with skeletal deformities during childhood.

Purpose of the Study:

  • To describe the clinical characteristics and potential complications of MHE and enchondromatosis.
  • To highlight the risks associated with these rare skeletal dysplasias.

Main Methods:

  • Review of literature on MHE and enchondromatosis.
  • Analysis of clinical presentations and outcomes.

Main Results:

  • MHE is an autosomal dominant disorder causing osteochondromas, potentially leading to joint issues and nerve compression.
  • Enchondromatosis (Ollier's disease) is non-inherited, presenting with asymmetric intraosseous enchondromas, causing deformities and restricted joint motion.
  • Maffucci's syndrome involves enchondromatosis with soft-tissue hemangiomas.

Conclusions:

  • Both MHE and enchondromatosis can result in significant skeletal deformities and joint dysfunction.
  • A notable risk in both conditions is the potential for malignant transformation and secondary degenerative joint disease.