Pediatric cutaneous mastocytosis and c-KIT mutation screening
Cutaneous mastocytosis (CM) is a heterogeneous disease that commonly presents with skin lesions in childhood.
In this study, we aimed to evaluate the clinical and laboratory test results of our patients with CM to ascertain prognostic factors by using patients' long-term follow-up results and to determine c-KIT (receptor tyrosine kinase) mutation from peripheral blood samples, which might be responsible for the etiopathogenesis of pediatric mastocytosis.
The clinical observation data of 32 children who had been diagnosed with CM were retrospectively researched. Exon 8, 9, 11, 13, and 17 c-KIT gene locations were analyzed from DNA material that was obtained from peripheral blood samples of all the patients by using polymerase chain reaction analysis and automatic DNA sequencing.
The tryptase level was higher in patients with familial cases and in cases of patients who had gastrointestinal mediator releasing symptoms (p = 0.017, p = 0.038, respectively). The use of clarithromycin and the use of vitamin D were determined as triggers for mediator release. Hypogammaglobulinemia was found in six patients (18.8%). Indoor tobacco exposure was seen to be higher in patients not in remission than in patients in remission (59.1% and 20%, respectively) (p = 0.040). Allergic diseases were observed in 80% of patients in complete remission and 22.7% of patients not in remission (p = 0.002). Concomitant allergic diseases were found to be good prognosis markers among pediatric patients with CM. No c-KIT mutation was discovered in any of the patients.
In this study, tobacco exposure would seem to be a barrier for remission, and concomitant allergic diseases were seen to be a good prognosis marker. Evaluation of peripheral c-KIT mutation had no diagnostic contribution among pediatric patients with CM in contrast to adults.
Keywords: Cutaneous mastocytosis; D816V KIT mutation; c-KIT mutation; children; familial mastocytosis; maculopapular cutaneous mastocytosis; pediatric mastocytosis; solitary mastocytoma; tryptase; urticaria pigmentosa
Document Type: Research Article
Affiliations: 1: From the Pediatric Allergy and Clinical Immunology Department, Health Science University Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey 2: Department of Genetics, Dr. Abdurrahman Yurtaslan Oncology Training and Research Hospital, Ankara, Turkey 3: Department of Dermatology, Health Science University Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey
Publication date: March 1, 2019
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