CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

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CHILDHOOD MASTOCYTOSIS AND COMORBIDITIES

Özgen Soyöz

İzmir Bakırçay University, Çiğli Training and Research Hospital, Department of Pediatric Immunology and Allergy, İzmir, Türkiye

Soyöz Ö. Childhood Mastocytosis and Comorbidities. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.99-107.

ABSTRACT

Mastocytosis is a heterogeneous disease characterized by clonal mast cell accumulation in different tissues and organs. Clinical findings may vary depending on the tissue involved. Mastocytosis may be seen in early childhood or adulthood. Childhood mastocytosis is a rare and mostly benign disease. Although isolated skin involvement is usually seen in children, systemic mastocytosis can also occur. Comorbidities associated with childhood mastocytosis are diverse and significantly affect the quality of life of affected individuals. Comorbidities include atopic disorders such as asthma, food allergy, and atopic dermatitis, bone-related complications such as osteoporosis or fractures, gastrointestinal disorders, neuropsychiatric disorders, cardiovascular manifestations and hematologic and oncologic disorders. When evaluated in terms of atopic diseases, the probability of developing venom allergy and anaphylaxis are higher in children with mastocytosis compared to the general population. Gastro- intestinal symptoms may occur in more than 50% of children with cutaneous mastocytosis. Although bone pathologies are more commonly investigated in adult patients, they can also be seen in pediatric patients with mastocytosis. It is thought that these comorbidities may be due to abnormal proliferation of mast cells, mast cell infiltration in tissues, mediators secreted from mast cells and their effects. Good definition of comorbid diseases and studies conducted in this area are very important for the develop- ment of more effective treatment strategies and disease management. The heterogeneity of the disease and the varying symptomatology in affected children complicate treatment strategies and can greatly affect the child’s quality of life. More comprehensive studies are needed to explore the long-term impacts of mastocytosis and its comorbidities, with the aim of developing more effective therapeutic strategies and improving overall care for pediatric patients. It is important to provide detailed informa- tion about the clinical picture and prognosis to affected families. This chapter was written to examine the relationship between childhood mastocytosis and comorbidities and to emphasize the importance of a multidisciplinary approach.

Keywords: Mastocytosis; Urticaria pigmentosa; Anaphylaxis; Asthma; Gastrointestinal diseases; Hematologic neoplasms

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