Cutaneous Lesions of Mastocytosis: Mast Cell Count, Morphology, and Immunomolecular Phenotype

Mastocytosis is a condition characterized by accumulation of clonal mast cells (MCs) that often involves the skin. Pathologists are often challenged with skin biopsies with a question of cutaneous lesions of mastocytosis (CLM) including cutaneous mastocytosis, mastocytosis in the skin, or systemic mastocytosis. The histopathological criteria for CLM remain poorly defined due to heterogeneity of the published literature and the lack of comparative prospective studies. MC count is greatly influenced by detection and counting techniques, criteria for viable MCs used, anatomical location biopsied, and the dermal level that is analyzed. Although MC numbers in CLM can be significantly higher compared with healthy controls and a patient with other inflammatory skin diseases, in some instances, considerable overlap exists. Based on the largest studies published, it is suggested that a number of MCs between 75 and 250 MCs/mm(2) are a range in which CLM should be considered and, above 250 MC/mm(2) , a diagnosis of CLM can be made. A recent study showed a high specificity of >95% of a MC count >139 MC/mm2 compared with patients with other inflammatory skin diseases. Noteworthy, the total number and percentage of MCs is significantly higher in children compared with adults, particularly in polymorphic maculopapular cutaneous mastocytosis. In difficult cases, ancillary techniques such as D816V mutation analysis on formalin-fixed paraffin-embedded tissue have a high sensitivity and specificity. There is no enough evidence that immunohistochemistry of CD25, CD2, or CD30 has any additional value in the diagnosis, subtyping, or clinical course of mastocytosis.

Automated summary

Mastocytosis is a disease characterized by abnormal proliferation of mast cells, mainly affecting the skin. The histopathological criteria for diagnosis are still controversial, and further research is needed to establish them. The number of mast cells is influenced by various factors such as detection techniques, criteria for viable mast cells, biopsy location, and dermal level. In the diagnosis of cutaneous lesions of mastocytosis, a mast cell count between 75 and 250 MCs/mm(2) should be considered, while a count above 250 MCs/mm(2) can confirm the diagnosis.