Consultant. Vol. 48 No. 10

Osteopoikilosis

By JEFFREY LANGE, AB and JASON KITTLER, MD, PhD, JD Pittsfield, Mass | September 1, 2008

A 21-year-old man presented for evaluation after he sprained his right ankle while hiking. Radiographs of the ankle showed no fractures but revealed diffuse sclerotic lesions in most of the visualized bones.

These hyperostotic areas of bone represent osteopoikilosis, a benign, autosomal dominant condition that occurs in about 1 in 50,000 persons.¹ The pelvic, carpal, and tarsal bones or the epiphyseal ends of long bones are most often affected.² Almost all affected persons have metacarpal lesions.^1,3The condition is usually diagnosed incidentally, as in this case.

The cause has been traced to a loss-of-function mutation in the LEMD3 gene, which leads to excessive intracellular Smad/transforming growth factor β signaling and in turn leads to increased bone synthesis, which correlates with multiple hyperostotic lesions.⁴ The distribution of sclerotic bone lesions varies among patients and may change over time.⁵

Osteopoikilosis may be an isolated finding or part of a clinical syndrome. Associated pathologies include connective tissue nevi, such as juvenile elastomas or dermatofibrosis lenticularis disseminata (Buschke-Ollendorf syndrome); hyperostosis of cortical tubular bone (melorheostosis); and a recently identified microdeletion syndrome on chromosome 12q14 that is marked by short stature, mental retardation, and osteopoikilosis.^6,7

When evaluating patients with multiple sclerotic bone lesions, consider both primary cancer and osteoblastic metastatic disease. Osteoblastic metastasis is of particular concern when breast or prostate cancer is suspected. Although tuberous sclerosis, bone infarction, and fibrous dysplasia are also associated with this radiographic finding, often the clinical picture will narrow the differential diagnosis.

A bone scan can usually distinguish osteopoikilosis from a malignant process. Radiotracer uptake is usually increased in patients with malignant disease and normal in those with osteopoikilosis. In young patients, however, abnormal bone scan results may indicate benign remodeling. ¹ Patients with rapidly growing lesions should be referred to an orthopedic surgeon for bone biopsy. Most patients with osteopoikilosis are asymptomatic. Periodic radiographic imaging is recommended because of rare complications, including spinal stenosis, pathological fracture, and malignant degeneration.^1,3

References

1. Carpintero P, Abad JA, Serrano P, et al. Clinical features of ten cases of osteopoikilosis. Clin Rheumatol. 2004;23:505-508.
2. Bull M, Calderbank P, Ramachandran N. A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report. Emerg Med J. 2007;24:e29.
3. Benli IT, Akalin S, Boysan E, et al. Epidemiological, clinical and radiological aspects of osteopoikilosis [published correction appears in J Bone Joint Surg Br. 1994;76:683]. J Bone Joint Surg Br. 1992;74:504-506.
4. Ben-Asher E, Zelzer E, Lancet D. LEMD3: the gene responsible for bone density disorders (osteopoikilosis). Isr Med Assoc J. 2005;7:273-274.
5. Resnick D. Bone and Joint Imaging. Philadelphia: WB Saunders; 1989:1234-1239.
6. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004;36:1213-1218.
7. Menten B, Buysse K, Zahir F, et al. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet. 2007;44:264-268.

BLOG FOR CONSULTANTLIVE

Send us your blogs! Contact us for more information if you are interested in writing a post or becoming a blogger.

TOPIC INDEX

Developmental/Genetic

Nutritional/Metabolic

ABOUT OUR BLOGGERS

	On Health and Mental Health Erik R. Vanderlip, MD, is a senior fellow and acting instructor in the University of Washington Department of Psychiatry. As a dually-trained family physician and psychiatrist, Dr Vanderlip is active in national health system redesign efforts with a particular interest in newer models of the medical home. He practices family medicine in a hybrid primary care clinic within a mental health center in Seattle.
	The HIV-AIDS Observer Rodger D. MacArthur, MD, is Professor of Medicine, Wayne State University, Department of Internal Medicine, Division of Infectious Diseases and Director and Site Principal Investigator, Wayne State University HIV/AIDS Clinical Research Unit.
	Speaking of Pain Steven A. King, MD, MS, is in the private practice of pain medicine in New York, and he is Clinical Professor of Psychiatry at the New York University School of Medicine, New York.
	Tales Doctors Tell David T Nash, MD, is Clinical Professor of Medicine at Upstate Medical Center in Syracuse, New York. The author of more than 250 peer-reviewed clinical articles, Dr Nash has practiced cardiology in Syracuse for over 50 years. He is a Fellow of the National Lipid Association.
	Primary Care Matters Gregory W. Rutecki, MD, is Professor of Medicine at the University of South Alabama College of Medicine in Mobile. He is section editor of the hypertension topic center on this web site.
	Practice Makes Perfect Pamela Wible, MD, pioneered the first community-designed ideal medical clinic in America. An expert in patient-centered care, Dr Wible helps citizens design cutting-edge clinics and hospitals nationwide. Her model is taught in medical schools and featured in Harvard School of Public Health's newest edition of Renegotiating Health Care. Dr. Wible is a medical reporter for the Oregonian, has been interviewed by CNN, ABC, CBS, and is a frequent guest on NPR.

FROM PHYSICIANS PRACTICE

Five Steps to Improving Patient Access
Judy Capko, May 21, 2013
Patient access is getting increased attention through reform initiatives. Here are five steps you can take to make sure patients get appropriate access to care in your office.

Growing HIPAA Threat – Ignore Windows XP at Your Own Peril
Marion K. Jenkins, May 21, 2013
Chances are good that you have some major ticking software time bombs lurking in your medical practice's computer environment, namely Windows XP and Server 2003.

Finding Physician Work-Life Balance in the Small Moments
Jennifer Frank, MD, May 21, 2013
At my practice and at home, things are always busy. There's laundry or homework, or a patient with needs.

Three Areas to Reduce Costs at Your Medical Practice
Greg Mertz, May 19, 2013
By taking a hard look at reducing costs for staffing, overhead, and technology at your medical practice, you may see increased physician compensation.

Dos and Don’ts for Starting a Physician Blog
Michael Woo-Ming, MD, May 18, 2013
Starting a physician blog can provide your medical practice with marketing benefits, but it's important to do it right.

Osteopoikilosis

Join the Conversation