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Mastocytosis
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Mastocytosis is not a single disease but a group of disorders in which mast cells, immune cells loaded with inflammatory substances, accumulate excessively in the tissues. It takes one of two labels depending on where that happens: cutaneous if it affects the skin only, and systemic if it affects tissues beyond the skin. Like a pantry that keeps getting more boxes shoved into it: there are more and more of these cells inside the tissue.
Mast cell production is regulated by a gene called KIT, which makes a cell membrane protein called CD117, a tyrosine kinase, that is, an enzyme that relays signals into the cell. That gene can mutate, and the KIT D816V mutation is the one that most often drives the systemic form.
And that is where the symptoms come from: the chronic, episodic release of the mediators those cells carry inside. The picture resembles that of an allergic reaction: itching, flushing of the skin, diarrhea and anaphylaxis, the severe generalized allergic reaction.
In brief
Mastocytosis covers disorders with excessive accumulation of pathologic mast cells: in the skin only in the cutaneous form, beyond it in the systemic form.
Like a pantry that keeps getting more boxes shoved into it.
Mast cell production is regulated by the KIT gene, which codes for the tyrosine kinase CD117; the KIT D816V mutation is the most common driver of the systemic form.
Symptoms come from the chronic, episodic release of their mediators and resemble an allergic reaction: itching, flushing, diarrhea and anaphylaxis.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingSystemic Mastocytosis, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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