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Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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Disorders of Erythrocytes

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Diseases of the Liver and Gallbladder

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Related Experiment Video

Updated: Jul 19, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

Ollier disease.

Caroline Silve1, Harald Jüppner

  • 1INSERM U. 773, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France. Caroline.Silve@bichat.inserm.fr

Orphanet Journal of Rare Diseases
|September 26, 2006
PubMed
Summary

Ollier disease, or enchondromatosis, involves multiple enchondromas causing skeletal issues and potential chondrosarcoma. Diagnosis relies on clinical and radiological findings, with surgery for complications.

Area of Science:

  • Orthopedics
  • Oncology
  • Genetics

Background:

  • Enchondromas are benign cartilaginous tumors near growth plates.
  • Enchondromatosis (Ollier disease) features multiple enchondromas, affecting 1 in 100,000 people.
  • Ollier disease presents with asymmetric lesions, skeletal deformities, and risk of malignant transformation to chondrosarcoma.

Purpose of the Study:

  • To summarize the characteristics, diagnosis, and management of Ollier disease.
  • To highlight the potential for malignant transformation in Ollier disease.
  • To discuss the current understanding of Ollier disease etiology.

Main Methods:

  • Review of clinical and radiological diagnostic criteria for enchondromatosis.
  • Analysis of complications associated with Ollier disease, including skeletal deformities and malignant changes.

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Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

  • Discussion of treatment strategies, primarily surgical intervention for complications.

    • Main Results:

    • Ollier disease is characterized by variable, asymmetric enchondroma distribution and early onset.
    • Skeletal deformities, limb-length discrepancy, and pathological fractures are common clinical problems.
    • Malignant transformation to chondrosarcoma is a significant risk, especially with early-onset disease.

    Conclusions:

    • Ollier disease diagnosis is primarily clinical and radiological, with histology reserved for suspected malignancy.
    • No medical treatment exists; surgery addresses complications like fractures or malignant transformation.
    • Prognosis varies, with earlier onset generally indicating a more severe disease course and higher chondrosarcoma risk.