Majeed syndrome

The Majeed syndrome is defined as the combination of chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA) and inflammatory dermatosis. It manifests already in infancy, which distinguishes the syndrome from an isolated CRMO.

Early onset results in more frequent episodes, shorter and less frequent remissions and probably lifelong activity. This can lead to joint contractures and slowed growth.

CDA (microcytosis in peripheral blood and bone marrow) varies in severity and may range from mild unrecognized anemia to transfusion-dependent anemia. The inflammatory dermatosis is usually a sweet-syndrome, but also a possible pustular disease.

So far, two Arabian, not demonstrably related families have been described in which the syndrome occurred. The cause lies in homozygous mutations in the LPIN2 gene, which are inherited as an autosomal recessive trait.

The Majeed syndrome is defined by the combination of chronic relapsing multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and inflammatory dermatosis. It manifests already in infancy, which distinguishes the syndrome from an isolated CRMO.

Early onset results in more frequent episodes, shorter and less frequent remissions, and probably lifelong activity. This can lead to joint contractures and slowed growth.

CDA (microcytosis in peripheral blood and bone marrow) is variable in severity and may range from a mild anemia, which is unrecognized, to a transfusion-dependent anemia. The inflammatory dermatosis is usually a sweet syndrome, but also a pustulosis is possible. & Nbsp;

So far, two Arabian, not proven related, families have been described in which the syndrome occurred. The cause lies in homozygous mutations in the LPIN2 gene, which are inherited as an autosomal recessive trait.