- The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can
affect bones, joints, and muscles. Researchers want to learn more about the disease and how
-To see what happens to people with melorheostosis over time and understand the causes of the
- People 18 and over with melorheostosis.
- Their unaffected relatives.
- All participants will have a medical history and physical exam.
- Participants who are relatives will give samples of blood or cheek cells.
- Other participants will be in the study for about 1 week.
- They will have blood and urine collected.
- Strength, walking, and range of motion will be measured.
- Participants may also have
- X-rays and scans.
- A pain and neurological evaluation.
- Their skin evaluated by a dermatologist.
- A small sample of bone taken.
- Nerve conduction studies. Small electrodes with to wires will be put on the skin. A
metal probe will give a small electrical shock.
- Electromyography. A thin needle will be placed into the muscles.
- An ultrasound, which uses sound waves to examine the muscles and nerves. An ultrasound
probe will be placed over the skin.
- A bone scan. They will get a small amount of radioactive fluid through a needle in an
arm vein. This fluid travels to the bones. The bones will be photographed in a machine.
- Bone Densitometry, a low-level x-ray.
- Photographs taken.
- A small circle of skin removed with a surgical instrument.
- Questionnaires about their quality of life.
- Participants will be asked to return about every 2 years. At these visits, participants
may have blood and urine tests and x-rays.
Melorheostosis is a rare osteosclerotic disease resulting in exuberant excessive bone growth
with a characteristic radiographic appearance often described as "dripping candle wax". As a
result of these bony formations, patients report mild-moderate pain that interferes with
their routine activities. It is usually diagnosed on radiographs but bone biopsy may be
performed to exclude other osteosclerotic diseases and/or osteosarcoma. Deformities,
limb-length discrepancy, muscle atrophy, neurological deficit have been reported as
The cause of this disease is not known, the natural history poorly described and there is no
clearly-defined systemic therapy. We propose a prospective observational study to investigate
the natural history and pathogenesis of the disease. Some subjects will undergo standardized
initial evaluation and medically indicated testing. Affected tissue will be sent for genetic
testing to pursue the hypothesis that melorheostosis results from acquired somatic mutations
in genes that control bone homeostasis. Enrolled subjects will be followed on an annual or
biennial basis for assessment of disease progression and receive clinically indicated testing
and treatment. The study of this rare bone disease offers the potential to generate new
insights, provide answers as well as generate new questions into the biology of the skeletal
and mineral metabolism.
- INCLUSION CRITERIA:
All eligible patients are invited to participate in this protocol. Patients are adults aged
> 18 years with possible melorheostosis (suspected or confirmed). Since both men and women
are affected with the disease, both sexes will be studied. All ethnic and racial groups are
at risk and will be included.
Relatives of patients with melorheostosis may be included for genetic testing only.
- Pregnant or lactating women. A pregnancy test is performed in women of childbearing
potential (up to age 55) unless they have a history of hysterectomy or tubal ligation.
- Children (age less than 18 years) are excluded.
- Subjects with severe active infection or other co-morbidities that in the opinion of
the investigator would warrant exclusion.
- Subjects unable to provide informed consent.