Clinical Aspects of Diffuse Cutaneous Mastocytosis in Children: Two Variants

Abstract

Objective: This paper describes two different clinical presentations of diffuse cutaneous mastocytosis (DCM), based on the largest series published to date. As far as we are aware, these two variants of clinical presentations have not yet been reported. Design: We undertook a case controlled analysis of 8 children with DCM. Results of laboratory testing including mast cell mediator levels, and clinical symptoms on presentation and during follow-up were analyzed. Results: The levels of relevant mast cell mediators were initially high in all cases but declined sharply later on. There was a reduction of 20% in 2 of the 7 cases, whereas there was a reduction of 80% in the remaining 5. No reduction occurred in 1 case. Clinical improvement followed the same pattern. Conclusions: DCM is a rare variant of cutaneous childhood onset mastocytosis. Various forms show the same or overlapping features at various times. It appears to follow a course similar to that in other types of childhood onset mastocytosis, taking into account the decreased symptoms and the levels of mast cell mediators during follow-up. Obtaining a bone marrow biopsy should be considered only in those cases where there is no improvement or even worsening of signs or symptoms and persistent elevated levels of mast cell mediators.

Urticaria pigmentosa: A case report

“…5 It can be divided into cutaneous mastocytosis and systemic mastocytosis. 2,3 Cutaneous mastocytosis usually affects the patients in early childhood and the disease often regresses spontaneously. 6 However, systemic mastocytosis frequently occurs in adult patients and tends to resist permanently.…”

“…1 It can be divided into cutaneous mastocytosis and systemic mastocytosis. 2,3 There are four clinical subtypes of cutaneous mastocytosis: urticaria pigmentosa, mastocytoma, diffuse cutaneous mastocytosis and telangiectasia macularis eruptiva perstans (TMEP). The most common type of cutaneous mastocytosis in children is urticaria pigmentosa.…”

Anesthetic considerations in pediatric mastocytosis: a review

“…Under the predominant theory of the adult form of the disease, an ''activating'' point mutation at the C-KIT locus (Asp816Val, or codon 816) codes for an abnormal cell membrane receptor protein for SCF, producing clonal mast cell lines that lack normal growth and differentiation [31][32][33]. However, C-KIT mutations have not been found in all patients with mastocytosis, particularly children [1,32].…”

“…There are also ''familial'' KIT mutations, A533D, K509I, del419, but their clinical relevance is unknown [12,15]. Although there seems to be a correlation between the C -KIT mutation and the more severe forms of the disease, patients' genotypes have not been shown to consistently correlate with a particular phenotype [26,31,34].…”

“…Current thinking is that pediatric and adult forms of mastocytosis may be separate entities, a theory supported by the observed genotypic differences between the two forms and the tendency for the childhood form to be selflimiting [1,14,25,31]. Whether mastocytosis is a disease of clonal proliferation, neoplasia, activation (''gain of function''), non-death, a reactive process, or altered function of mast cell growth factor-or a combination of these processes-is unclear [20,25,30,32,33,35].…”