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Clinical and Demographic Characteristics of Cutaneous Mastocytosis in Childhood: Single-center Experience
Arzu Yazal Erdem1, Derya Özyörük1, Suna Emir2
1Departments of Pediatric Hematology and Oncology.
Insights
Pediatric mastocytosis, primarily skin-limited urticaria pigmentosa, rarely progresses to systemic disease. Further research is needed for standardized follow-up guidelines in children.
Area of Science:
- Pediatric Hematology
- Dermatology
- Immunology
Background:
- Mastocytosis is a rare, heterogeneous disorder.
- In children, it typically manifests on the skin and often resolves spontaneously during adolescence.
Purpose of the Study:
- To investigate the demographic, clinical, and laboratory features of pediatric mastocytosis.
- To identify coexisting conditions in affected children.
Main Methods:
- Retrospective analysis of 61 pediatric patients diagnosed with mastocytosis.
- Evaluation of clinical presentation, laboratory data, and follow-up duration.
Main Results:
- The study included 61 pediatric patients (median age 2 years), with a male-to-female ratio of 2.2.
- Urticaria pigmentosa was the most common presentation (45.9%).
- No patients with suspected systemic mastocytosis developed the disease during a median 9-year follow-up; 8.2% had coexisting allergic diseases, and one developed B-cell lymphoma.
Conclusions:
- Pediatric mastocytosis, predominantly cutaneous, can present with diverse clinical signs.
- Standardized clinical criteria and follow-up guidelines are necessary for managing childhood mastocytosis.
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.
