Causes and Risk Factors
True or False: Ollier’s disease is inherited from one or both parents.
False — it’s a non-hereditary, sporadic condition.
What is often the first sign of Ollier’s disease in children?
Bone deformities or uneven limb growth.
How can Ollier’s disease affect a child’s daily activities?
It can cause mobility challenges and physical limitations due to deformities
What type of surgery is often needed to correct bone deformities?
Orthopedic surgery, such as bone grafts or limb lengthening
Why are patient registries important for rare diseases like Ollier’s?
They help collect data on long-term outcomes and support research into targeted therapies.
What type of abnormal tissue growth characterizes Ollier’s disease?
Enchondromas, which are benign cartilage tumors inside bones.
What imaging technique is typically used to diagnose enchondromas?
X-rays
Describe a psychosocial factor that complicates pediatric management of Ollier’s disease.
Body image distress and social isolation due to visible deformities or frequent medical procedures
Which medical specialist typically manages care for patients with Ollier’s disease?
An orthopedic surgeon or oncologist for tumor monitoring
What potential new treatment is being studied for IDH-mutant tumors?
IDH inhibitors, such as ivosidenib, which block the mutant enzyme.
Which part of the body is most commonly affected by enchondromas?
Long bones, especially in the hands and feet.
What symptom might appear as the disease progresses and affects bone structure?
Limb length discrepancy or bone fractures.
What types of support can improve mental and physical well-being?
Physical therapy, counseling, and peer support groups
Why are radiation therapies generally contraindicated in Ollier’s disease management?
They can increase the risk of secondary malignant transformation in cartilage tissue
What future treatment approach might correct the underlying gene mutation?
Gene-editing techniques like CRISPR-Cas9 and precision molecular therapy.
What type of genetic mutation is commonly associated with Ollier’s disease?
Somatic mutations in the IDH1 or IDH2 genes
Which advanced imaging test can assess metabolic activity in suspected malignant transformation?
PET scan (FDG-PET) showing elevated metabolic uptake.
How can limb-length discrepancy in Ollier’s disease impact long-term musculoskeletal health?
It causes altered biomechanics, leading to secondary joint degeneration or spinal curvature
What is the purpose of long-term imaging surveillance protocols in Ollier’s patients?
To monitor for early signs of chondrosarcoma transformation, often using MRI or PET at regular intervals
What kind of testing can detect mosaic IDH mutations in tissue samples?
Next-generation sequencing (NGS) or digital droplet PCR (ddPCR).
What is the main difference between Ollier’s disease and Maffucci syndrome?
Maffucci syndrome includes vascular malformations (hemangiomas), while Ollier’s disease does not.
What potential complication must doctors monitor for in Ollier’s disease?
Transformation into chondrosarcoma, a type of bone cancer
Why does repeated surgical intervention carry cumulative risk in Ollier’s disease patients?
Recurrent surgical trauma and scar formation can increase the risk of malignant transformation and complications.
Because Ollier’s disease isn’t inherited but occurs from random gene changes, why does genetic counseling still matter?
It helps explain the low but uncertain recurrence risk and offers guidance on long-term health and monitoring.
What is the role of IDH mutations in the development of cartilage tumors?
They lead to the buildup of 2-hydroxyglutarate (2-HG), which disrupts normal cell differentiation.