Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease

Journal of Internal Medicine
T GülenG Nilsson

Abstract

Mastocytosis is a complex disorder characterized by the accumulation of abnormal mast cells (MC) in the skin, bone marrow and/or other visceral organs. The clinical manifestations result from MC-derived mediators and, less frequently, from destructive infiltration of MCs. Patients suffer from a variety of symptoms including pruritus, flushing and life-threatening anaphylaxis. Whilst mastocytosis is likely to be suspected in a patient with typical skin lesions [i.e. urticaria pigmentosa (UP)], the absence of cutaneous signs does not rule out the diagnosis of this disease. Mastocytosis should be suspected in cases of recurrent, unexplained or severe insect-induced anaphylaxis or symptoms of MC degranulation without true allergy. In rare cases, unexplained osteoporosis or unexplained haematological abnormalities can be underlying feature of mastocytosis, particularly when these conditions are associated with elevated baseline serum tryptase levels. The diagnosis is based on the World Health Organization criteria, in which the tryptase level, histopathological and immunophenotypic evaluation of MCs and molecular analysis are crucial. A somatic KIT mutation, the most common of which is D816V, is usually detectable in MCs and their p...Continue Reading

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Citations

Jun 2, 2017·Current Opinion in Allergy and Clinical Immunology·Theo Gülen, Cem Akin
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Feb 10, 2021·Current Allergy and Asthma Reports·Theo Gulen, Cem Akin
Jan 8, 2021·Orphanet Journal of Rare Diseases·L MasiUNKNOWN IOF Skeletal Rare Diseases Working Group
Mar 6, 2021·The Journal of Allergy and Clinical Immunology·Theo GülenGunnar Nilsson

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