Related Experiment Video
Updated: Jun 10, 2026
07:24
Autologous Microfractured and Purified Adipose Tissue for Arthroscopic Management of Osteochondral Lesions of the Talus
Published on: January 23, 2018
Enchondromatosis: insights on the different subtypes.
Twinkal C Pansuriya1, Herman M Kroon, Judith V M G Bovée
1Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Summary
Enchondromatosis, a rare skeletal disorder with multiple enchondromas, includes subtypes like Ollier disease. Research is exploring genetic causes, potentially linked to growth plate signaling pathways.
Area of Science:
- Skeletal Dysplasias
- Medical Genetics
- Oncology
Background:
- Enchondromatosis is a rare skeletal disorder characterized by multiple enchondromas, benign cartilage tumors.
- It encompasses several subtypes, with Ollier disease and Maffucci syndrome being the most common.
- The genetic basis for most enchondromatosis subtypes remains largely unknown.
Purpose of the Study:
- To review clinical information for all enchondromatosis subtypes.
- To discuss available molecular data and potential genetic causes.
- To highlight the importance of accurate diagnosis for treatment and research.
Main Methods:
- Review of existing clinical data on enchondromatosis subtypes.
- Analysis of current molecular findings related to enchondroma development.
- Discussion of potential genetic links to growth plate signaling pathways.
Main Results:
- Enchondromas were historically viewed as developmental, but genetic abnormalities suggest a neoplastic origin.
- Active hedgehog signaling is implicated in enchondroma development.
- PTH1R mutations are found in a subset of Ollier disease patients.
Conclusions:
- Understanding the distinct causes of enchondromatosis subtypes is crucial for diagnosis, therapy, and research.
- Genes involved in hedgehog/PTH1R growth plate signaling are potential candidates for causing enchondromatosis.
- Further research is needed to determine if subtypes represent a spectrum of a single disease or distinct entities.
Related Concept Videos
01:30Pulmonary Hypertension: Classification and Pathogenesis
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
01:19Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
01:27Growth of Cartilage and Bone Tissue
Chondrocytes form a temporary cartilaginous model by dividing and secreting a thick gel-like extracellular matrix. Once the chondrocytes undergo programmed cell death, osteoblasts enter the site of the cartilaginous model. The process of replacing the temporary cartilaginous model with bone in an ordered manner is called endochondral ossification. In endochondral ossification, not all of the cartilage is replaced by bone tissue. Some cartilage that performs a protective and supportive function...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:24Bone Formation by Endochondral Ossification
Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...