RUDN Journal of Medicine (Sep 2024)
Monomorphic type сlinical features of maculopapular cutaneous mastocytosis
Abstract
Relevance.Amonomorphic type of maculo-papular cutaneous mastocytosis was allocated relatively recently. Inchildren and adolescents with amonomorphic type of MPCM (adult type pattern), clinical manifestations persist into adulthood and can transform into asystemic process, which determines the need for regular monitoring of this category of patients.Theaimwas to analyse the results of clinical, laboratory and instrumental examinations of an adolescent with amonomorphic type of MPCM.Materials and Methods. The study of an adolescent patient included data of laboratory examination, pathomorphological examination, ultrasound examination of the abdominal organs and cKIT gene of an adolescent with amonomorphic type of MPCM, observed at “Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology”.Resultsand Discussion.The process was represented by multiple rashes on the skin of the trunk and limbs. Darier’s sign is positive. The patient’s serum tryptase level exceeded the age norm. The late onset (atthe age of 12)of the disease, elevated tryptase levels, neurological symptoms, and the risk of anaphylaxis caused alertness regarding the development of the systemic form, therefore an ultrasound examination of the abdominal organs was performed and the presence of amutation in the cKIT gene in peripheral blood was determined.Conclusion.Clinical report of an adolescent patient in Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology was presented. Thus, the combination of clinical and laboratory data allows minimizing the number of invasive procedures in children with CM. Assessment of the tryptase level, mutation detection in the cKIT gene and ultrasound examination of abdominal organs can be useful for timely diagnosis of systemic mastocytosis, which allows to carry out the necessary correction of the disease status and drug therapy.
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