Chronic recurrent multifocal osteomyelitis

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Chronic recurrent multifocal osteomyelitis
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Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called multifocal because it can appear in different parts of the body, primarily bones, and osteomyelitis because it is very similar to that disease, although CRMO appears to be without any infection.

The definition of CRMO is evolving. Many doctors and articles described CRMO as an

autoinflammatory disease
but have yet to isolate the exact gene or other causes responsible for it.

Symptoms and signs

Symptoms may include bone and joint pain, skin redness or inflammation, inflammatory bowel disease, psoriasis, and blister-like lesions on the palms and soles of the feet.[1]

Cause

Some specialists believe they have discovered a link between CRMO with a rare

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 cause of chronic recurrent multifocal osteomyelitis are uncertain.[2] The professional theories seem to be moving in the direction of an inherited gene.[citation needed
]

Diagnosis

CRMO/CNO is diagnosed by exclusion. This means that other diseases must be ruled out before the diagnosis can be made. Generally, many tests are required, such as blood tests, x-rays, bone scans, MRI and often a bone biopsy.[citation needed]

Classification

Due to its inflammatory nature, its recurrent flares, and its lack of any known

multifactorial disorders (Crohn's and Behçet's diseases). CRMO is no longer considered an autoimmune but rather an inherited, autoinflammatory disease.[citation needed
]

Treatment

CRMO/CNO is generally treated by a specialist doctor (paediatric rheumatologist) who has experience with patients with CRMO/CNO.[citation needed]

Goals of treatment of CRMO/CNO include:[citation needed]

  • Reduce inflammation
  • Prevent bone damage and bone deformities
  • Decrease pain

CRMO/CNO is different for each patient. Not every patient responds to every treatment. The patient's doctor may need to try several medications before finding the one that works for them. In severe cases, doctors may combine medications to treat the disease. The patient's doctor will work with them to help find the best treatment. For some CRMO/CNO patients, the disease can be managed with non-steroidal anti-inflammatory drugs (NSAIDs). NSAIDs are the first line treatment. However, if NSAIDs are not effective, or if your child does not tolerate NSAIDs well, second line treatments are available.[citation needed]

First line treatments include[

Indomethacin (Indocin), Diclofenac
(Voltaren)

Second line treatments include

Pamidronate (Aredia), Zoledronic acid (Zometa), Adalimumab (Humira), Etanercept (Enbrel), Infliximab (Remicade)[citation needed
]

These medications are also used in children with other inflammatory and/or bone conditions. Side effects may occur while taking these medications.[citation needed]

Prognosis

Prognosis will depend on the patient's individual disease and response to treatment. It is best to discuss the prognosis with a pediatric rheumatologist.[citation needed]

Epidemiology

CRMO was once considered strictly a

childhood disease, but adults have been diagnosed with it. The affected tends to range from 4 to 14 years old, with 10 as the median age. As stated above, CRMO occurs 1:1,000,000 and primarily in girls with a 5:1 ratio. That means out of six million, there will probably be 5 girls and 1 boy with the condition.[citation needed
]

Majeed syndrome

neonate. At age 15 months, she developed recurrent episodes of fever and multifocal osteomyelitis. In addition, bone marrow aspiration demonstrated significant dyserythropoiesis (defective red cell formation), suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. A homozygous single-basepair change was detected in the donor splice site of exon 17 (c.2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the cause of Majeed syndrome.[3]

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis, uncommon childhood diseases of unknown cause, occurred in three children (two brothers and a female cousin). Their parents are consanguineous, and the clinical course of their illness was similar. The two brothers also had

Sweet syndrome. The association of Sweet syndrome with chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia in this family suggests that these rare conditions may be interrelated.[4]

Notes

  1. ^ "Chronic recurrent multifocal osteomyelitis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2022-01-10. Retrieved 2022-01-10.
  2. PMID 17496555
    .
  3. PMID 17330256.[dead link
    ]
  4. PMID 2809904
    .

References

Further reading

External links

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