CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

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INTRODUCTION TO CHILDHOOD MASTOCYTOSIS

Öner Özdemir

Sakarya University, Faculty of Medicine, Sakarya Training and Research Hospital, Department of Pediatric Immunology and Allergy Diseases, Sakarya, Türkiye

Özdemir Ö. Introduction to Childhood Mastocytosis. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.3-11.

ABSTRACT

Mast cells develop from the bone marrow and drift into circulation and connective tissues in a prede- cessor state where Mast cells perform many different functions. Mastocytosis is a systemic pathology established by amplified buildup of clonal Mast cells in the skin and/or diverse organs. The type of mastocytosis that involves the skin, stays there most of the time and does not spread to other sys- tems, occurs in childhood and disappears over time is called cutaneous mastocytosis (CM). Although rarely familial cases have been defined, CM is thought to be a sporadic disease. While there are no exact figures regarding the incidence of mastocytosis diseases, the rate of new cases in the general population is reported to be 5-10/106. CM can occur at any time from birth to late adulthood. CM is a self-resolving disease and was previously thought to be nonclonal in contrast to the adult form. WHO classifies CM into 3 main types: Maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM) and solitary cutaneous mastocytoma. CM is usually identified by visualizing typical skin lesions, particularly in children. Furthermore, the diagnosis of CM can be confirmed by a positive Darier’s sign in combination with three easily recognized different forms (MPCM, mastocyto- ma and DCM) and a skin biopsy performed in cases with suspicious lesions and clinical signs showing MC infiltrates. In two thirds of patients with CM, as in idiopathic anaphylaxis, no symptom trigger is recognized. Triggers of Mast cell activation should be taught to patients and their parents. The use of oral H1/H2 antihistaminics helps to regulate itching and flushing in MPCM. The prognosis of CM is outstanding, particularly if the inception of CM is in the first two years of child. CM is limited to the skin and happens nearly entirely in children. If the onset of CM is in the first two years of life, an excel- lent prognosis can be expected. In the differential diagnosis, the various dermatologic and/or systemic diseases should not be ignored. In the presence of the aforementioned risk factors, all CM cases should be evaluated and followed up for the development of systemic disease.

Keywords: Mast cell; Mastocytosis; Childhood mastocytosis; Cutaneous mastocytosis; Urticaria pigmentosa

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