Majeed syndrome
| Majeed syndrome | |
|---|---|
 | |
| This condition is inherited in an autosomal recessive manner. | |
| Specialty | Medical genetics  |
Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.[1] It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective copies (autosomal recessive inheritance) of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism. The pathogenesis of this mutation with the clinical manifestations has not been elucidated.[2]
Treatments
[edit]Treatments for this disorder are often based on what symptoms are present in the patient. Most commonly prescribed treatments include nonsteroidal anti-inflammatory drugs (NSAIDs), as well as physical therapy in order to prevent muscle atrophy in patients. Red blood transfusions could also be done for patients with severe congenital dyserythropoietic anemia (CDA).[3]
See also
[edit]References
[edit]- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ "Majeed syndrome". Genetics Home Reference. Retrieved 17 April 2018.
- ^ "Majeed syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-11-11.
External links
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