Updates in diagnosis and management of paediatric mastocytosis

Abstract

Purpose of reviewPaediatric mastocytosis is a rare clonal disorder characterized by the overproduction and organ infiltration of mast cells. Symptoms are due to mast cell mediator release. Cutaneous mastocytosis is the most common presentation in children with systemic disease being rare. Our aim is to provide a practical guideline in differentiating subtypes of paediatric mastocytosis while providing actionable recommendations on diagnosis, clinical management, follow-up and prognosis. Recent findingsLongitudinal cohort studies of paediatric cutaneous mastocytosis have shown spontaneous remission with favourable prognosis. Hereditary alpha-tryptasemia may coexist with mastocytosis; thus, screening for this disorder is recommended. There is an emerging role for serum tryptase in asthma endotyping and potential for using therapeutic tryptase inhibitors. SummaryMorbidity in paediatric mastocytosis typically arises from symptoms secondary to mast cell mediator release. Prognosis for nonaggressive disease is typically favourable; however, risks for anaphylaxis and psychosocial morbidity may be underestimated. Symptomatic management and anticipatory guidance may help support patients and families throughout the disease course.

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease

“…In children with DCM, the Darier’s sign should be elicited with caution, particularly in infants, because hard stroking of the skin may lead to flushing or hypotension due to massive MC degranulation [ 6 , 28 , 82 ]. In unclear cases, lesional skin biopsy and immunohistochemistry should be conducted with antibodies against tryptase and/or CD117, which is the gold-standard [ 6 , 8 , 83 ] ( Figure 2 ). MC infiltration in the dermis ( Figure 2 ) may be accompanied by subepidermal edema, causing vesiculobullous lesions [ 28 , 58 ].…”

“…Moreover, molecular analysis of KIT mutations in lesional skin may be used to confirm the diagnosis of CM [ 7 ]. The determination of baseline serum tryptase levels is also considered a valuable tool for diagnosing and monitoring DCM patients [ 8 , 61 , 83 ]. However, it is important to note that elevated tryptase levels can strongly suggest a diagnosis of mastocytosis but do not conclusively confirm it.…”

“…It is worth pointing out here that children with DCM commonly have elevated serum tryptase levels even in the absence of an underlying SM in many cases, which is due to the extensive MC burden in the entire skin [ 14 , 15 , 28 , 59 ]. In all DCM children, a physical examination including inspection of the skin, abdominal palpation, abdominal ultrasound, serum chemistry, and a complete blood count with differential are also recommended [ 8 , 83 ]. Further diagnostic evaluations, including BM studies, are indicated only in selected cases with highly suspected systemic involvement and are not universally recommended [ 8 , 19 , 59 , 61 , 83 ].…”

“…In all DCM children, a physical examination including inspection of the skin, abdominal palpation, abdominal ultrasound, serum chemistry, and a complete blood count with differential are also recommended [ 8 , 83 ]. Further diagnostic evaluations, including BM studies, are indicated only in selected cases with highly suspected systemic involvement and are not universally recommended [ 8 , 19 , 59 , 61 , 83 ].…”

Pediatric asthma and development of atopy 2023

“…Pediatric mastocytosis is a rare clonal disease distinguished by the overproduction of mast cells and their infiltration into organs. Tiano et al [9] review actionable recommendations on diagnosis, clinical management, follow-up, and prognosis. Cutaneous mastocytosis is the most frequent expression in pediatric age, with systemic disorder being rare.…”