Clinical spectrum of patients diagnosed with urticaria pigmentosa (Childhood mastocytosis)

INTRODUCTION AND AIM: Mastocytosis refers to a rare disease group. It is characterized by morphologically excessive accumulation of mast cells in one or more tissues. Mastocytosis in children; follows a bimodal distribution. It peaks at the first three years of age, followed by a decline, and a second, much smaller increase in cases of mastocytosis is observed after the age of 15. Although symptoms are difficult to manage in cases of pediatric mastocytosis and are sometimes associated with significant morbidity, in most cases the symptoms are limited to the skin and follow a mostly benign course in children. Rashes are most common on the trunk, and maculopapular rash is the most common. Detection of Darier's sign is pathognomonic for cutaneous mastocytosis disease. In our study, patients diagnosed by our specialists after history, physical examination and clinical evaluation were retrospectively analyzed. METHODS: After the approval of the ethics committee, patients diagnosed with urticaria pigmentosa (mastocytosis) who applied to Sakarya University Training and Research Hospital between 01.01.2010 and 28.04.2021 were screened and 38 patients were included in the study. The gender of the patients, the age of onset of the complaints, the age of diagnosis, the type and size of the rash, accompanying symptoms, additional allergic disease, family history, physical examination and laboratory tests were scanned. RESULTS: Of the 38 patients diagnosed with urticaria pigmentosa (mastocytosis) included in the study, 13 (34.2%) were female and 25 (65.8%) were male. The male/female ratio was found to be 1.92/1. The median age of onset of the patients' complaints was 8 (0-60.0) months; the median age at diagnosis was 11.5 (2-64) months; The median age of regression of their complaints was 54 (6-192) months. Findings continued in 17 (44.7%) of the patients followed. Itching, redness, GIS symptoms and maculo-papular eruption were the most common complaints. The rashes were mostly polymorphic and larger than 1 cm. Heat (temperature) was the most common trigger. Darier's sign was positive in 97.3% of the patients. Hepatosplenomegaly was not detected in the physical examination and abdominal ultrasonography of the patients. Bone marrow aspiration was performed for systemic involvement in a patient with tryptase level >20 ng/ml, no systemic mastocytosis was detected. The patients had no family history of mastocytosis. Antihistamines were the most commonly used drug for prophylaxis and treatment. The autoinjector prescription rate was 23.6%. CONCLUSION: Quality of life of our patients was mildly affected in 38% according to CDLQI scores. Although cutaneous mastocytosis usually has a good prognosis, it may result in death in the presence of systemic involvement, so patients should be followed up for rate of rationegaly, bicytopenia and tryptase elevation. Keywords: Darier's sign, cutaneous mastocytosis, mast cell, tryptase, urticaria pigmentosa