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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ribbing disease


Other Names for this Disease
  • Multiple diaphyseal sclerosis
  • Diaphyseal sclerosis, multiple
  • Hereditary multiple diaphyseal sclerosis
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Overview

Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.[1][2][3] Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).[4] The cause of the condition is currently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion. Optimal treatment for the disease is largely unknown. There have been case reports describing treatment of Ribbing disease with bisphosphonate pamidronate. Results have been mixed. The condition often resolves on its own; however cases of progressive disease have been described.[1][2][3]
Last updated: 12/1/2011

References

  1. Ziran, et. al.. Ribbing disease: radiographic and biochemical characterization, lack of response to pamidronate. Skeletal Radiol. 2002; 12:714-719. http://www.ncbi.nlm.nih.gov/pubmed/12483434. Accessed 12/1/2011.
  2. Rubin, et. al.. Clinical, humoral and scintigraphic assessment of a bisphosphonate as potential treatment of diaphyseal dysplasia: Ribbing and Cammurati-Engelmann diseases. Medicina (B. Aires). 1997; http://www.ncbi.nlm.nih.gov/pubmed/9567356. Accessed 4/15/2011.
  3. Ribbing disease. Online Mendelian Inheritance in Man (OMIM). June 2009; http://www.ncbi.nlm.nih.gov/omim/601477. Accessed 12/1/2011.
  4. Cocco G, Kovac C, Sfrisi C, Pouleur H. Cardiac involvement in Ribbing's disease. Eur Heart J. 1994; 15(8):1124-8. http://eurheartj.oxfordjournals.org/content/15/8/1124.short. Accessed 12/1/2011.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ribbing disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Multiple diaphyseal sclerosis
  • Diaphyseal sclerosis, multiple
  • Hereditary multiple diaphyseal sclerosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.