Abstract
Mast cells contain chemicals needed for the body’s response to extrinsic challenges in various tissues, including the skin. Little is known about the genetic control of mast cell numbers in unchallenged skin. Overabundance of mast cells in mastocytosis, resulting from their excess production in the bone marrow, is characterized by somatic KIT alteration, although such variants are not always found in cutaneous mastocytosis. It appears that many germline variants can predispose to this condition, including those near OTX2, ABCA2, CYP2B5, RPTN (Nedoszytko et al., 2020), CEBPA, LICO1412, and TBLXR1 (Galatà et al., 2021).
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