Clinical characteristics of pediatric cutaneous mastocytosis and the association with allergic comorbidities and inborn errors of immunity

Öz

Objective: Cutaneous mastocytosis (CM) is the most common form of mastocytosis in childhood; however, data on its clinical course and associated allergic and immunologic features remain limited. This study aimed to characterize the clinical phenotype of pediatric CM and to evaluate the frequency of concomitant allergic diseases and inborn errors of immunity (IEI). Methods: This retrospective study included 17 pediatric patients diagnosed with CM between 2007 and 2025. Demographic characteristics, clinical findings, laboratory parameters, allergic sensitization, immunologic evaluation, and follow-up outcomes were systematically analyzed. Results: The cohort showed a male predominance (64.7%), with a median age at symptom onset of 14.2 months. Maculopapular cutaneous mastocytosis was the most frequent subtype (82.3%), followed by diffuse CM and solitary mastocytoma. During a median follow-up of 4.5 years, 11.2% of patients achieved complete regression, 47.0% showed partial regression, 35.2% remained stable, and 5.8% exhibited progression. No cases of systemic mastocytosis, anaphylaxis, or mortality were observed. Eosinophilia was present in 23.5% and hepatosplenomegaly in 11.7% of patients, without evidence of organ dysfunction. Serum immunoglobulin levels and vaccine responses were within normal ranges in all evaluated patients, and no IEI was identified. Elevated IgE levels were detected in 17.6%, while allergic sensitization was documented in 29.4%. Allergic comorbidities were observed in 41.1% of patients, most commonly allergic rhinitis. Conclusion: Pediatric CM predominantly presents as an early-onset, skin-limited disease with a favorable and often regressive clinical course. The frequency of allergic diseases and sensitization does not appear to be increased compared to the general population, and humoral immune function remains preserved. These findings support a selective, clinically driven approach to immunologic evaluation rather than routine screening in children with CM.

Anahtar Kelimeler

• Cutaneous Mastocytosis
• Inborn Errors of Immunity
• Allergic Diseases
• Urticaria Pigmentosa
• Comorbidity
• Pediatric
• Primary Immunodeficiency

Pediatrik Kutanöz Mastositozun Klinik Özellikleri ve Alerjik Komorbiditeler ile Doğuştan Bağışıklık Kusurları Arasındaki İlişki

Öz

Amaç: Kutanöz mastositoz (KM), çocukluk çağında mastositozun en sık görülen formudur; ancak klinik seyri ile ilişkili alerjik ve immünolojik özelliklere dair veriler sınırlıdır. Bu çalışmada pediatrik KM hastalarının klinik fenotipinin tanımlanması ve eşlik eden alerjik hastalıklar ile doğuştan bağışıklık yetmezliklerinin (IEI) sıklığının değerlendirilmesi amaçlanmıştır. Yöntemler: Bu retrospektif çalışmaya 2007–2025 yılları arasında KM tanısı alan 17 pediatrik hasta dahil edildi. Demografik özellikler, klinik bulgular, laboratuvar parametreleri, alerjik duyarlanma, immünolojik değerlendirme ve izlem sonuçları sistematik olarak analiz edildi. Bulgular: Olguların %64,7’si erkek olup, semptom başlangıç yaşı medyan 14,2 ay idi. En sık görülen alt tip makülopapüler kutanöz mastositoz (%82,3) olup, bunu diffüz KM ve soliter mastositom izledi. Medyan 4,5 yıllık izlem süresinde hastaların %11,2’sinde tam regresyon, %47,0’sinde parsiyel regresyon gözlenirken, %35,2’si stabil seyretmiş ve %5,8’inde progresyon saptanmıştır. Sistemik mastositoz, anafilaksi veya mortalite izlenmemiştir. Eozinofili hastaların %23,5’inde, hepatosplenomegali ise %11,7’sinde saptanmış olup organ disfonksiyonu gözlenmemiştir. Tüm hastalarda immünoglobulin düzeyleri ve aşı yanıtları normal sınırlarda bulunmuş, hiçbir hastada IEI saptanmamıştır. Yüksek IgE düzeyi %17,6 oranında görülürken, alerjik duyarlanma %29,4 olarak belirlenmiştir. Hastaların %41,1’inde eşlik eden alerjik hastalık bulunmuş olup en sık alerjik rinit saptanmıştır. Sonuç: Pediatrik KM genellikle erken başlangıçlı, deri ile sınırlı ve iyi prognozlu bir hastalık olup çoğunlukla stabil veya regrese olan bir seyir göstermektedir. Alerjik hastalık ve duyarlanma sıklığı genel popülasyona kıyasla artmış görünmemekte, humoral immünite korunmuş olarak izlenmektedir. Bu bulgular, KM’li çocuklarda rutin immünolojik tarama yerine klinik bulgulara dayalı seçici bir yaklaşımın daha uygun olduğunu desteklemektedir.

Anahtar Kelimeler

• Kutanöz Mastositoz
• Doğuştan Bağışıklık Kusurları
• Alerjik Hastalıklar
• Ürtikerya Pigmentoza
• Komorbidite
• Pediatrik
• Primer İmmün Yetmezlik.

Kaynakça

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