What Is Mastocytosis?
4. Diagnosis
In urticaria pigmentosa, diagnosis can usually be achieved via the history and examination of the patient. However, as a confirmatory test, a skin biopsy may be necessary using a 3 mm to 5 mm punch biopsy. If systemic disease is suspected, the serum tryptase levels can be measured.
To diagnose systemic mastocytosis, the criteria (one major and one minor or 3 minor) has to be fulfilled. The major criterion is the presence of dense infiltrates of more than 15 mast cells in an extracutaneous organ or bone marrow. Minor criteria include the finding of mutation in KIT (D816V), aberrant mast cell morphology, aberrant phenotype on the mast cells, and S-tryptase levels of more than 20 ng/ml. Imaging tests such as a bone scan, radiologic survey, computed tomography (CT) scan, and endoscopy may also be beneficial.
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