Chronic recurrent multifocal osteomyelitis
| Chronic recurrent multifocal osteomyelitis | |
|---|---|
| Classification and external resources | |
| Specialty | rheumatology |
| ICD-10 | M86.3 |
| OMIM | 259680 |
| DiseasesDB | 34523 |
| MeSH | C535456 |
| GeneReviews | |
Chronic recurrent multifocal osteomyelitis (CRMO) ("multifocal" because it can erupt in different sites, primarily bones; "osteomyelitis" because it is very similar to that disease but appears to be without any infection), also known as chronic recurring multifocal osteomyelitis, is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. Its definition is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Cutting edge research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene responsible for it. Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated." The professional theories seem to be moving in the direction of an inherited gene.
Due to its inflammatory nature, its recurrent outbreaks, and its lack of any known pathogen, CRMO has been reclassified as an autoinflammatory disease. This particular classification encompasses both hereditary types (familial Mediterranean fever, mevalonate kinase deficiency, TNF receptor associated periodic syndrome, cryopyrin-associated periodic syndrome, Blau syndrome, pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome, CRMO) and multifactorial disorders (Crohn's and Behçet's diseases). CRMO is no longer considered an autoimmune but rather an inherited, autoinflammatory disease.
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