Background:
Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders.
Objective:
To understand the genetic causes of OD and MS.
Eligibility:
People aged 2 years and older who have OD or MS with cartilage tumors or blood vessel disorders.
Design:
Participants will stay at the NIH clinic for 5 days. They will undergo these procedures:
A physical exam with blood tests.
DXA (dual-energy X-ray absorptiometry) scan. The DXA scan measures the density of bones. Participants will lie on a table while a machine uses low-level X-rays to scan their body.
MRI (magnetic resonance imaging) scan. An MRI uses strong magnets to take pictures of the tissues inside the body. Participants will lie on a table that slides into a large tube. A contrast dye may be injected through a needle inserted into a vein in the arm.
X-rays. Some participants may have full-body X-rays instead of an MRI. X-rays take pictures of bones and other internal tissues and organs, such as the heart, lungs, and airways.
PET (positron emission tomography) and CT (computed tomography) scans. Adult participants will have 2 other scans. The PET scan will include a radioactive injection into a vein. They will also have a full-body CT scan.
None
None
100 patients with Ollier disease (OD) and Maffucci syndrome (MS)
Case-only
Cross-sectional
Not listed
Comprehensively define the phenotypic features of patients with OD and MS.
Identify the complete set of phenotypic features characteristic of patients with OD and MS by performing a detailed assessment of their clinical and family histories and physical features at the NIH/CC.
Identify and locate enchondromas, vascular anomalies, and other tumors with imaging techniques. Create a biobank of patient and family specimens for genetic and metabolic testing.
Determine the number, size, and location of enchondromas and vascular anomalies and identify other tumors in these patients by performing whole-body MRI or X-ray, MRA, and brain magnetic resonance spectroscopy; and establish a biobank of specimens from patients and family members for genetic, metabolic, and functional testing.
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