Disease Profile

Chronic recurrent multifocal osteomyelitis

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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of Onset

Childhood

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ICD-10

M86.3

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)

CRMO; Multifocal osteomyelitis, chronic; Chronic multifocal osteomyelitis;

Categories

Musculoskeletal Diseases; Skin Diseases

Summary

Chronic recurrent multifocal osteomyelitis (CRMO) causes abnormal inflammation to occur in and around the bones. Symptoms usually begin in childhood but can occur at any age. Symptoms may include episodes of pain and joint swelling, skin redness, and sometimes a fever. In some cases, CRMO leads to abnormal bone growth, bone deformity, and fractures. Symptoms can last for years, and may go away on their own. CRMO may occur alone or with other skin or bowel inflammation conditions. In rare cases, CRMO occurs as part of one of these genetic syndromesMajeed syndromeDIRA or PAPA syndrome. The cause of CRMO is unknown, but a genetic influence is thought to be involved. Diagnosis of CRMO is based on the symptoms, clinical exam, and imaging studies. Other more common conditions may need to be excluded before a diagnosis of CRMO can be made. Treatment is focused on managing the symptoms and include medications such as non-steroidal anti-inflammatories, corticosteroids, and other drugs that reduce inflammation.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with chronic recurrent multifocal osteomyelitis (CRMO). These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms may include:

Symptoms typically start in childhood but can occur in any age. Symptoms range in severity from mild to severe. The bones most affected are the long bones, pelvis, shoulder girdle, and spine. CRMO can last from one to twenty years. In severe cases, bone deformities and fractures may occur.[1][2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bone pain
0002653
Hyperostosis
Bone overgrowth
0100774
Osteomyelitis
Bone infection
0002754
30%-79% of people have these symptoms
Abnormal vertebral morphology
0003468
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Arthritis
Joint inflammation
0001369
Craniofacial osteosclerosis
0005464
Edema
Fluid retention
Water retention

[ more ]

0000969
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Fatigue
Tired
Tiredness

[ more ]

0012378
Osteolysis
Breakdown of bone
0002797
Poor appetite
Decreased appetite
0004396
Weight loss
0001824
5%-29% of people have these symptoms
Abnormality of the sacroiliac joint
0100781
Acne
0001061
Anemia
Low number of red blood cells or hemoglobin
0001903
Cranial nerve paralysis
0006824
Fever
0001945
Inflammation of the large intestine
0002037
Palmoplantar pustulosis
0100847
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Psoriasiform dermatitis
0003765
Scoliosis
0002650
Skin rash
0000988
Vasculitis
Inflammation of blood vessel
0002633
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007

Cause

The exact cause of chronic recurrent multifocal osteomyelitis (CRMO) is unknown. It is thought that genetics may play a role. In rare cases, CRMO can occur as part of Majeed syndrome, DIRA, or PAPA syndrome. All of these conditions occur due to a genetic variant in a single gene.[1]

Diagnosis

Diagnosis of chronic recurrent multifocal osteomyelitis (CRMO) is based on the symptoms, clinical exam, and imaging studies. Other more common conditions may need to be excluded before CRMO can be diagnosed. Sometimes a bone biopsy is necessary to remove a small piece of bone for examination under the microscope.[1][2]

Treatment

Treatment for chronic recurrent multifocal osteomyelitis (CRMO) is focused on managing the symptoms. Treatment may include non-steroidal anti-inflammatory drugs, corticosteroids, and other drugs designed to control inflammation and prevent bone loss.[1][3]

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

    Organizations Providing General Support

      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.

      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. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic recurrent multifocal osteomyelitis. Click on the link to view a sample search on this topic.

        References

        1. Hofmann SR, Kaplusch F, Girschick HJ, Morbach H, Pablik J, Ferguson PJ, et al. Chronic Recurrent Multifocal Osteomyelitis (CRMO): Presentation, Pathogenesis, and Treatment. Curr Osteoporos Rep. Dec 2017; 15(6):542-554. https://pubmed.ncbi.nlm.nih.gov/29080202/.
        2. Buch K, Thuesen ACB, Brøns C, Schwarz P. Chronic Non-bacterial Osteomyelitis: A Review. Calcif Tissue Int. May 2019; 104(5):544-553. https://pubmed.ncbi.nlm.nih.gov/30456556/.
        3. Girschick H, Finetti M, Orlando F, Schalm S, Insalaco A, Ganser G, et al. The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry.. Rheumatology (Oxford). Jul 1, 2018; 57(7):1203-1211. https://pubmed.ncbi.nlm.nih.gov/29596638/.
        4. Zhao Y, Ferguson PJ. Chronic Nonbacterial Osteomyelitis and Chronic Recurrent Multifocal Osteomyelitis in Children. Pediatr Clin North Am. Aug 2018; 65(4):783-800. https://pubmed.ncbi.nlm.nih.gov/30031498/.