Majeed syndrome

Majeed syndrome is a very rare inherited condition that causes three main problems: a bone disease called chronic recurrent multifocal osteomyelitis (CRMO), a blood disorder called congenital dyserythropoietic anemia (CDA), and a skin condition called inflammatory dermatosis. The bone disease causes repeated episodes of painful swelling and inflammation in the bones, especially in the long bones of the arms and legs, the collarbone, and the spine. These episodes can come and go over time but often become chronic. The anemia means the body cannot make enough healthy red blood cells, which leads to tiredness, pale skin, and poor growth. The skin condition causes a rash that may look red and scaly. Majeed syndrome is caused by changes (mutations) in a gene called LPIN2. Because of this gene change, the body's immune system becomes overactive and attacks its own tissues, causing ongoing inflammation. Symptoms usually begin in infancy or very early childhood and can be quite severe. Children with this condition often experience significant pain, fatigue, and growth problems. There is currently no cure for Majeed syndrome. Treatment focuses on controlling inflammation and managing symptoms. Anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, are commonly used. Newer biologic medicines that target specific parts of the immune system, such as IL-1 blockers like anakinra and canakinumab, have shown promising results in some patients. Blood transfusions may be needed to manage severe anemia. A team of specialists is usually needed to provide the best care.

Bring these to your next appointment

• Q1.Which specialists should be part of my child's care team, and how often should we see each one?,Is my child a candidate for IL-1 blocking medicines like anakinra or canakinumab, and what are the risks and benefits?,How will we monitor for bone damage over time, and what imaging will be needed?,What signs should prompt me to go to the emergency room rather than wait for a regular appointment?,Are there any clinical trials or research studies that my child might be eligible for?,Should other family members be tested for the LPIN2 gene mutation?,What support services — such as pain management, physical therapy, or mental health support — are available for my child?

Common questions about Majeed syndrome