Mastocytosis is a heterogeneous disorder marked by mast cell accumulation in various organs, presenting differently in children and adults. Red or brown maculopapular lesions on the skin should raise suspicion for mastocytosis. In children, presentations include solitary lesions (mastocytoma) or diffuse erythema (diffuse cutaneous mastocytosis). Adults often require bone marrow biopsies for a definitive diagnosis of systemic mastocytosis. Skin biopsies typically reveal mast cell hyperplasia and cytologic abnormalities. Given skin manifestations, dermatologists play a critical role in initial diagnosis and workup of this disease. Key diagnostic tools include serum tryptase levels, complete blood counts (CBC), bone marrow biopsy and potentially imaging studies to identify systemic involvement. Classification into subtypes is vital for understanding the disease course and prognosis which ranges from benign to severe. Management strategies vary by severity, with dermatologists playing a crucial role in interdisciplinary treatment. Recent advancements in targeted therapies, particularly KIT D816V inhibitors, show promise for improving outcomes in both symptomatic indolent systemic mastocytosis and advanced systemic mastocytosis. This paper reviews the diagnostic criteria, clinical features, and emerging treatments for mastocytosis, emphasizing the need for comprehensive assessment and interdisciplinary management to optimize patient care.
Keywords: Systemic mastocytosis (SM); cutaneous mastocytosis (CM); diagnosis; management; treatment.
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