Clinical and Demographic Characteristics of Cutaneous Mastocytosis in Childhood: Single-center Experience

Abstract

Introduction: Mastocytosis is a rare and heterogenous disease, and in children it is generally limited to the skin and tends to regress spontaneously in adolescence. Aim: In this study, demographic, clinical, and laboratory characteristics of pediatric patients with mastocytosis, and also coexisting diseases were investigated. Results: A total of 61 pediatric patients were included in the study. The male-to-female ratio was 2.2, the median age was 2 years (range, 0.25 to 19 y), and the median follow-up period was 2.0 years (range, 0.25 to 19 y). Types of clinical presentation at diagnosis consisted of mainly urticaria pigmentosa (45.9%). Seven patients were further investigated with suspicion of systemic mastocytosis, they were followed up, median of 9 years (range, 2.5 to 16 y), and none of them developed systemic disease. Coexisting allergic diseases were recorded in total 5 patients (8.2%). Three patients had immunoglobulin A deficiency, 1 patient had elevated immunoglobulin E level. A patient developed mature B-cell lymphoma with a heterozygous mutation in c-KIT exon 11. Discussion: Cutaneous mastocytosis in children may present as a complex disease with different clinical signs and symptoms. Standardized clinical criteria and guidelines for the follow-up of children with mastocytosis are required.

Characteristics of an ethnically diverse cohort of children with pediatric cutaneous mastocytosis: One institution's experience

“…Gastrointestinal manifestations such as diarrhea (15.3%) and abdominal pain (12.4%) were also the most common systemic symptoms reported in a study describing PCM from five clinical US sites 1 ; however, there is no information about the ethnicity of those children with systemic manifestations. A study of 71 Mexican children with PCM described diarrhea as the most common systemic symptom (12.67%), 5 while in contrast, much lower rates of overall systemic symptoms were found in reports from Israel (1.66%) 6 and Turkey (0%) 7 . These findings could indicate that systemic manifestations in PCM may vary based on the ethnicity.…”

“…A study of 71 Mexican children with PCM described diarrhea as the most common systemic symptom (12.67%), 5 while in contrast, much lower rates of overall systemic symptoms were found in reports from Israel (1.66%) 6 and Turkey (0%). 7 These findings could indicate that systemic manifestations in PCM may vary based on the ethnicity.…”

Evaluation of a diagnostic algorithm for mastocytosis in skin biopsies and CD25 expression in skin mast cells of 49 patients followed up at a Tertiary Hospital in Sao Paulo, Brazil

“…Evaluation of a diagnostic algorithm for mastocytosis in skin biopsies and CD25 expression in skin mast cells of 49 patients followed up at a Tertiary Hospital in Sao Paulo, Brazil Dear Editors, Mastocytosis is characterized by accumulation of neoplastic mast cells, exclusively in the skin (cutaneous mastocytosis-CM) or also in other organs (systemic mastocytosis-SM). 1,2 The definitive diagnosis of CM or cutaneous involvement of SM requires a skin biopsy demonstrating mast cell (MC) infiltrate in the dermis. The aberrant expression of CD25 in the blood marrow is a criterion for SM, but there is no specific marker for systemic mastocytosis in the skin.…”