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Disease Profile

Diffuse idiopathic skeletal hyperostosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

DISH Forestier's disease; Forestier disease; DISH;

Summary

Diffuse idiopathic skeletal hyperostosis (DISH) is a common skeletal disorder characterized by unusual, new bone formation. The new bone forms most often where ligaments and tendons (connective tissues that connect bones) join bone (entheseal area), but there is also a generalized hardening of bones and bone overgrowth (hyperostosis).[1] Although these changes are most often seen in the spine, DISH can affect almost any part of the skeleton, including hips, knees, ankles, feet, shoulders, hands, and ribs.[2][3] Many people with DISH do not have any symptoms, but in some cases the symptoms get worse over time (progressive) and become quite severe. The most common symptoms are pain, stiffness and reduced range of motion of the neck or upper back.[2][3][4]

DISH is caused by the build up of calcium salts in the tendons and ligaments (calcification) and abnormal new bone growth (ossification) but the reason this happens is unknown. Researchers believe some combination of mechanical, genetic, environmental, and metabolic factors are involved. DISH is more common in people over 50 and in men. While there is no known cure for DISH, there are treatments that can help control symptoms.[1][2][3][4]

Symptoms

Although diffuse idiopathic skeletal hyperostosis (DISH) does not cause symptoms for everyone, for some people the symptoms of DISH get worse over time (progressive) and become severe. The upper part of the back and neck (thoracic and cervical spine) are the most commonly affected areas of the body; however, people with DISH may also have symptoms in other places like the feet, ankles, knees, hips, shoulders, elbows, hands, ribs and even the head (skull). Symptoms vary depending on the areas of the skeleton affected, but may include:[2][3][4][5]

Cause

Diffuse idiopathic skeletal hyperostosis (DISH) is caused by the build up of calcium salts in the tendons and ligaments (calcification) and abnormal new bone growth (ossification and hyperostosis), but the reason this happens is not understood despite a lot of research. Medical researchers believe the bone formation that is unique to DISH is caused by abnormal growth and activity of bone forming cells (osteoblasts) in the area where tendons and ligaments attach to bone (enthesis). Possible causes of the this bone growth include:[1][2][3][4][5]

  • Mechanical factors, such as repetitive lifting and moving of heavy objects
  • Dietary factors, such as long term exposure to high amounts of Vitamin A
  • Medications, such as long term use of synthetic vitamin A products or retinoids, most often used to treat severe acne
  • Genetic factors, such as a genetic predisposition
  • Metabolic conditions, such as diabetes mellitusacromegaly, and obesity
  • Abnormalities of fat derived hormones (possibly leptin) and growth hormones

However, even when an increased risk due to a factor is consistently seen in studies, no one factor has been found to cause DISH by itself. Medical researchers therefore believe DISH is caused by several of these factors working together to cause the abnormal bone growth.[1][2][3][4][5]

Diagnosis

A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected by the signs and symptoms a person has. X-rays can confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other diseases that cause the same symptoms. All three types of imaging studies may be used to see which other areas of the skeleton are affected by DISH.[2][6][7]

Treatment

Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin, others). Severe pain may be treated with corticosteroid injections. Muscle relaxants may also be helpful.[3][4][6]

Physical therapy and/or exercise may reduce the stiffness associated with DISH and can help increase range of motion in the joints.[3][4][6]

Even though few studies have focused on indications for surgery, it is generally accepted that surgery is indicated for people with severe symptoms (such as airway obstruction and/or dysphagia) in whom medication and therapy approaches have failed.[4][6]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The Mayo Clinic Web site provides further information on Diffuse idiopathic skeletal hyperostosis.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Diffuse idiopathic skeletal hyperostosis. Click on the link to view a sample search on this topic.

          References

          1. Pillai S and Littlejohn G. Metabolic Factors in Diffuse Idiopathic Skeletal Hyperostosis – A Review of Clinical Data. The Open Rheumatology Journal. 2014; 8:116-128. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293739/.
          2. Helfgott SM. Diffuse idiopathic skeletal hyperostosis (DISH). UpToDate. June 7, 2017; https://www.uptodate.com/contents/diffuse-idiopathic-skeletal-hyperostosis-dish.
          3. Mader R, Verlaan JJ, & Buskila D. Diffuse idiopathic skeletal hyperostosis: clinical features and pathogenic mechanisms. Nat Rev Rheumatol. December 2013; 9(12):741-50. https://www.ncbi.nlm.nih.gov/pubmed/24189840.
          4. Nascimento FA, Gatto LAM, Lages RO, Neto HM, Demartini Z, & Koppe GL. Diffuse idiopathic skeletal hyperostosis: A review. Surgical Neurology International. 2014; 5(Suppl 3):S122-S125. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023007/.
          5. Pappone N, Ambrosino P, Di Minno MN, and Iervolino S. Is diffuse idiopathic skeletal hyperostosis a disease or a syndrome? Need for studies on angiogenesis-stimulating activity. Rheumatology (Oxford). December 24 2016; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28013194.
          6. Rothschild BM. Diffuse Idiopathic Skeletal Hyperostosis. Medscape Reference. October 5, 2017; https://emedicine.medscape.com/article/1258514-overview.
          7. Holgate RL and Steyn M. Diffuse idiopathic skeletal hyperostosis: Diagnostic, clinical, and paleopathological considerations. Clin Anat. October 2016; 29(7):870-7. https://www.ncbi.nlm.nih.gov/pubmed/27004482.

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