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Erdheim–Chester disease (ECD) is an extremely rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis). It was declared a histiocytic neoplasm by the World Health Organization in 2016. [1]
The mutations causes white blood cells (lymphocytes, macrophages, and eosinophils) to move towards dendritic cells, resulting in damage in any organ except the heart and kidneys. [1] The disease was once thought to be a lipid storage disease as the lesions have a high cholesterol content, but the blood cholesterol is usually normal.
According to the Histiocytosis Association, 1 in 200,000 children in the United States are born with histiocytosis each year. [2] HAA also states that most of the people diagnosed with histiocytosis are children under the age of 10, although the disease can afflict adults. The disease usually occurs from birth to age 15. [3]
Vegetative and heterocyst cells divide labor by exchanging sugars and nitrogen. The bacteria may also enter a symbiotic relationship with certain plants. In such a relationship, the bacteria do not respond to the availability of nitrogen, but to signals produced by the plant for heterocyst differentiation.
The disease spectrum results from clonal accumulation and proliferation of cells resembling the epidermal dendritic cells called Langerhans cells, sometimes called dendritic cell histiocytosis. These cells in combination with lymphocytes , eosinophils , and normal histiocytes form typical LCH lesions that can be found in almost any organ . [ 5 ]
Most children with Chédiak–Higashi syndrome ultimately reach a stage known as the "accelerated phase", or the "lymphoma-like syndrome", in which defective white blood cells divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and ...
Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34+ mast cell precursors. [1]
The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA . [ 3 ]