Case Report: Mastocytosis: The Long Road to Diagnosis

Mastocytosis is a heterogeneous group of disorders characterized by expansion and accumulation of clonal mast cells. Patients mainly present with either cutaneous lesions, anaphylaxis, or both. Its low prevalence and unusual features often hinder its diagnosis for several years. We report the case of an 18-year-old male who was referred to our department with a long-standing history of atypical skin lesions, allergic rhinitis, exercise-induced bronchoconstriction and what was believed to be food-related flushing and anaphylaxis, that was later diagnosed with mastocytosis. This case illustrates the need to consider investigating for mastocytosis when recurrent anaphylaxis is present, especially in the presence of atypical skin lesions, even if normal serum basal tryptase levels and allergic sensitization are present.

Automated summary

Mastocytosis is a rare and heterogeneous group of disorders characterized by expansion and accumulation of clonal mast cells, presenting mainly with cutaneous lesions and anaphylaxis. Due to its unusual features, the diagnosis of mastocytosis may be delayed for several years.