Background:

Mastocytosis is a group of rare diseases, characterized by the excessive clonal mast cell proliferation and accumulation, having cutaneous and/or systemic involvement. During pediatric age, cutaneous mastocytosis is the most common presentation.

Aim:

This descriptive analysis of children diagnosed with mastocytosis has the purpose of evaluating their demographic characteristics and clinical findings.

Methods:

The clinical files of patients diagnosed with mastocytosis from January 2014 to June 2019 at Hospital Pediátrico de Coimbra were reviewed.

Results:

Cutaneous mastocytosis was the final diagnosis for all 14 patients. The mean age for the starting lesions was 15.1 months, with a median of 5 months. The mean age for diagnosis was 22.5 months and the median 9.5 months. 8 patients were male, 12 had maculopapular cutaneous mastocytosis and 2 had mastocytoma. Regarding the subclassification of maculopapular cutaneous mastocytosis, 11 were classified as polymorphic and 1 as monomorphic. Darier’s sign was positive in 12 patients, 10 had pruritus, 2 had abdominal pain and 3 diarrhea. None of the patients had an anaphylactic episode. Every patient had an initial evaluation with tryptase dosage measurement, varying between 1.3‑15.9 ng/mL at this point. 8 patients had the diagnosis confirmed through a skin biopsy. As medical therapy was included avoidance of triggers, H1 antihistamine and moderate to strong strength topical corticosteroid. The lesions progression remains stable in 12 patients.

Conclusions:

This analysis reaffirms what is written about the theme in current literature. It emphasizes the importance of knowing the disease’s pediatric characteristics to ensure the prevention of triggers and an accurate diagnosis, investigation and treatment.

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