Majeed syndrome is an inherited skin disorder characterized by
chronic recurrent multifocal osteomyelitis,
congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) ...
and a neutrophilic dermatosis.
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.
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 A nonsteroidal compound is a drug that is not a steroid nor a steroid derivative. Nonsteroidal anti-inflammatory drugs (NSAIDs) are distinguished from corticosteroids as a class of anti-inflammatory agents.
List of nonsteroidal steroid receptor mod ...
(NSAIDs), as well as
physical therapy
Physical therapy (PT), also known as physiotherapy, is a healthcare profession, as well as the care provided by physical therapists who promote, maintain, or restore health through patient education, physical intervention, disease preventio ...
in order to prevent
muscle atrophy
Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakne ...
in patients. Red
blood transfusion
Blood transfusion is the process of transferring blood products into a person's Circulatory system, circulation intravenously. Transfusions are used for various medical conditions to replace lost components of the blood. Early transfusions used ...
s could also be done for patients with severe
congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) ...
(CDA).
See also
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TNF receptor associated periodic syndrome
TNF receptor associated periodic syndrome (TRAPS) 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. Individuals with TRAPS have ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
References
External links
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Autoinflammatory syndromes
Syndromes
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