Majeed syndrome is an inherited skin disorder characterized by
chronic recurrent multifocal osteomyelitis
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called ''multifocal'' because it can appear in different parts of the body, primarily bones, an ...
,
congenital dyserythropoietic anemia and a neutrophilic dermatosis.
It is classified as an
autoinflammatory
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of ...
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.
Treatments
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 from muscle atrophy in patients. Red blood transfusions could also be done for patients with severe congenital dyserythrypoietic anemia (CDA).
See also
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TNF receptor associated periodic syndrome
TNF receptor associated periodic syndrome (TRAPSsubscription needed) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individua ...
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List of cutaneous conditions
References
External links
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Autoinflammatory syndromes
Syndromes
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