Enchondromatosis

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.

Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options. Adventure Therapy, employing exposure to natural environments, has shown promise in improving self-esteem, autonomy, and social skills in chronic illness and disability populations. This pilot study explores the feasibility and preliminary efficacy of a sailing-based intervention for enhancing physical, social, and psychological well-being in this specific population.
Outcome Measures The primary outcome is to investigates the feasibility of sailing to improve well-being and quality of life in patients living with rare skeletal disorders.
Furthermore, the investigators hypothesize that participation in a sailing program led by occupational therapists will lead to improvements in:
* Movement confidence: assessing whether sailing enhances participants' ability to move and perform daily activities.
* Mental health: evaluating if sailing reduces anxiety and fear and promotes self-esteem.
* Social interaction: exploring if sailing fosters social connection and reduces feelings of isolation.
Methods The study will use a prospective, single-arm, longitudinal design. Eight participants with rare skeletal disorders will be enrolled in a 5-day sailing-based occupational therapy intervention. Comprehensive pre- and post-intervention assessments will measure psychosocial factors, quality of life, functional mobility, kinesiophobia, and body segment movement using questionnaires and functional scales.