Extracutaneous mastocytoma
Extracutaneous mastocytoma is a rare form of mastocytosis, a condition characterized by an abnormal accumulation of mast cells in various tissues of the body. Unlike other forms of mastocytosis, extracutaneous mastocytoma primarily affects internal organs rather than the skin.
Etiology[edit | edit source]
The exact cause of extracutaneous mastocytoma is unknown. However, it is believed to be related to mutations in the KIT gene, which plays a crucial role in the development and function of mast cells.
Symptoms[edit | edit source]
Symptoms of extracutaneous mastocytoma can vary widely depending on the organs affected. Common symptoms include abdominal pain, nausea, vomiting, diarrhea, and anaphylaxis in severe cases.
Diagnosis[edit | edit source]
Diagnosis of extracutaneous mastocytoma typically involves a combination of blood tests, imaging studies, and biopsy of affected tissues. The presence of excessive mast cells in these tissues confirms the diagnosis.
Treatment[edit | edit source]
Treatment for extracutaneous mastocytoma is primarily aimed at managing symptoms and preventing complications. This may involve the use of medications to control the release of substances from mast cells, such as antihistamines, corticosteroids, and mast cell stabilizers.
Prognosis[edit | edit source]
The prognosis for individuals with extracutaneous mastocytoma can vary widely. Some individuals may experience mild symptoms and lead normal lives, while others may experience severe symptoms and complications that can be life-threatening.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Extracutaneous mastocytoma is a rare disease.
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Contributors: Prab R. Tumpati, MD
