Pediatric Cutaneous Mastocytosis and c-KIT Mutation Screening

Allergy Asthma Proc. 2019 Mar 1;40(2):123-128. doi: 10.2500/aap.2019.40.4201.


Background: Cutaneous mastocytosis (CM) is a heterogeneous disease that commonly presents with skin lesions in childhood. Objective: 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. Methods: 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. Results: 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. Conclusion: 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.

MeSH terms

  • Child
  • Child, Preschool
  • Comorbidity
  • Female
  • Genetic Testing
  • Humans
  • Hypersensitivity
  • Male
  • Mastocytosis, Cutaneous / diagnosis
  • Mastocytosis, Cutaneous / etiology*
  • Mastocytosis, Cutaneous / genetics
  • Mutation*
  • Pediatrics
  • Prognosis
  • Proto-Oncogene Proteins c-kit / genetics*
  • Tobacco Smoke Pollution / adverse effects


  • Tobacco Smoke Pollution
  • KIT protein, human
  • Proto-Oncogene Proteins c-kit