CRMO (chronic recurrent multi focal osteomyelitis) is associated with which syndrome?
The correct answer and explanation is:
Chronic recurrent multifocal osteomyelitis (CRMO) is associated with Majeed syndrome.
Explanation:
Majeed syndrome is a rare, autosomal recessive condition that combines features of chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and neutrophilic dermatosis. CRMO is a type of sterile, non-infectious bone inflammation that typically affects children and young adults. It is characterized by recurrent episodes of bone pain and swelling, commonly in the long bones, pelvis, and spine. Over time, bone lesions may become visible on X-rays or MRI, though the disease is non-infectious, meaning there is no bacterial or viral agent involved.
The osteomyelitis in CRMO is multifocal, meaning it affects multiple sites in the body simultaneously. The chronic nature of CRMO leads to frequent flare-ups and periods of remission. Its connection with Majeed syndrome highlights a genetic basis for the condition, as the syndrome is associated with mutations in the LPIN2 gene, which is involved in lipid metabolism. These mutations are believed to play a role in inflammation regulation, leading to the bone lesions characteristic of CRMO.
Majeed syndrome also includes other systemic features such as anemia and skin involvement. The congenital dyserythropoietic anemia seen in Majeed syndrome is a type of anemia where there is ineffective red blood cell production, causing a reduction in red blood cell count and mild to moderate anemia. Additionally, skin problems like pustular psoriasis or pyoderma gangrenosum may be present, further linking the disease to neutrophilic dermatosis.
While CRMO is not as well-known as some other autoimmune bone disorders, its association with Majeed syndrome is important for clinicians to consider in diagnosing pediatric patients presenting with recurrent bone pain and inflammation. The genetic basis of Majeed syndrome allows for better understanding and potential interventions that target the underlying mechanisms of disease.