Cutaneous mastocytosis

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Disease Overview

Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype.[8369][8371][8387] Cutaneous mastocytosis is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation.[8369] However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner.[8384] Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.[8369][8386]


Synonyms

  • Mastocytoma

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National Organization for Rare Disorders