Case Report: Mastocytosis: The Long Road to Diagnosis

Overview

Journal Front Immunol

Specialty Allergy & Immunology

Date 2021 Mar 1

PMID 33643319

Citations 2

Authors

Tiago Azenha Rama

Diana Martins

Nuno Gomes

Jorge Pinheiro

Ana Nogueira

Luis Delgado

Jose Luis Placido

Alice Coimbra

Affiliations

Soon will be listed here.

Abstract

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.

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