Majeed syndrome

From WikiMD's Wellnesspedia

Alternate names[edit | edit source]

Chronic recurrent multifocal osteomyelitis, congenital; Dyserythropoietic anemia, and neutrophilic dermatosis; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; CDA and CRMO

Definition[edit | edit source]

Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia(CDA).

Summary[edit | edit source]

CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome.

Epidemiology[edit | edit source]

Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.

Cause[edit | edit source]

Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be involved in controlling inflammation and in cell division.

Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.

Inheritance[edit | edit source]

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.

Signs and symptoms[edit | edit source]

Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.

Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe.

Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

  • Abnormality of bone marrow cell morphology
  • Arthralgia (Joint pain)
  • Bone pain
  • Cachexia(Wasting syndrome)
  • Congenital hypoplastic anemia
  • Fever
  • Hypochromic microcytic anemia
  • Metaphyseal irregularity(Irregular wide portion of a long bone)
  • Osteomyelitis(Bone infection)
  • Papule
  • Pustule(Pimple)

30%-79% of people have these symptoms

  • Acne
  • Edema(Fluid retention)
  • Failure to thrive(Faltering weight)
  • Headache(Headaches)
  • Hepatomegaly(Enlarged liver)
  • Increased bone mineral density(Increased bone density)
  • Leukocytosis(Elevated white blood count)
  • Myalgia(Muscle ache)
  • Splenomegaly(Increased spleen size)
  • Synovitis

5%-29% of people have these symptoms

  • Cough(Coughing)
  • Flexion contracture(Flexed joint that cannot be straightened)
  • Glomerulopathy
  • Increased susceptibility to fractures(Abnormal susceptibility to fractures)
  • Malabsorption(Intestinal malabsorption)
  • Microscopic hematuria(Small amount of blood in urine)
  • Proteinuria(High urine protein levels)
  • Pulmonary infiltrates(Lung infiltrates)

1%-4% of people have these symptoms

  • Microcytic anemia
  • Recurrent fever(Episodic fever)

Diagnosis[edit | edit source]

The diagnosis is based on genetic testing of the causative gene mutation.Osteomyelitis can be diagnoised on skeletal radiographs but may require magnetic resonance imaging(MRI).Bone,bone marrow and skin biopsies may also be needed.

Treatment[edit | edit source]

Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.

NIH genetic and rare disease info[edit source]

Majeed syndrome is a rare disease.


Majeed syndrome Resources

Find a healthcare provider anywhere in the world quickly and easily!

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Deepika vegiraju, Dr.T