n. a condition caused by mast cell proliferation due to KIT proto-oncogene mutations. It most commonly manifests in the skin but also affects other organs. Maculopapular variants were formerly known as urticaria pigmentosa. Systemic involvement is common in adult cases, with bone marrow examination essential for accurate diagnosis. It may be associated with haematological abnormalities, including leukaemias. Resolution is common in children with skin involvement only. Treatment includes antihistamines, mast-cell stabilizers (such as sodium cromoglicate), and tyrosine kinase inhibitors.
Subjects: Medicine and Health.