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| Majeed Syndrome | |
Majeed Syndrome presents in infancy or early childhood, and symptoms can persist throughout adulthood. Patients can have recurrent episodes of fever, along with a very painful inflammatory bone condition called Chronic Recurrent Multifocal Oseteomyelitis (CRMO). This bone inflammation can lead to many health complications, including slow growth, joint deformities (contractures) and severe pain. Patients with Majeed syndrome also have a blood disorder called Dyserythropoitic anemia. People with this condition can have fatigue, pale skin, general weakness, and shortness of breath.
Patients with Majeed often have inflammatory disorders on their skin, with the Sweet Syndrome (also known as acute febrile neutrophilic dermatosis) being the most common finding. Sweet Syndrome (SS) presents with a sudden onset of fevers, leukocytosis, along with painful erythematous, blistering bumps on the face, neck back and arms that show dense infiltrates of neutrophil granulocytes.
Majeed is caused by mutations in the LPIN2 gene, which instructs the lipin-2 protein. People can carry this gene mutation as carriers of the recessive gene. If both parents carry this recessive gene mutation, and their child inherits this mutation from both parents, the child will have this disease.
Although a carrier may not usually show symptoms of Majeed syndrome, some of the carrier parents of children with Majeed have psoriasis, and inflammatory skin disease.
Information on Majeed is based on the NIH Genetics Home Reference: http://ghr.nlm.nih.gov/condition/majeed-syndrome
For more information on Sweet Syndrome, please go to: http://www.mayoclinic.com/health/sweets-syndrome/DS00752/DSECTION=symptoms
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