Cutaneous Mastocytosis in Childhood—Update from the Literature

Abstract

Mastocytosis (M) represents a systemic pathology characterized by increased accumulation and clonal proliferation of mast cells in the skin and/or different organs. Broadly, M is classified into two categories: Cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In children, CM is the most frequent form. Unfortunately, pathogenesis is still unclear. It is thought that genetic factors are involved, but further studies are necessary. As for features of CM, the lesions differ in clinical forms. The most important fact is evaluating a pediatric patient with CM. It must comprise laboratory exams (with baseline dosing of total serum tryptase), a skin biopsy (with a pathological exam and, if the diagnosis is unclear, immunohistochemical tests), and a complete clinical evaluation. It is also defining to distinguish between CM and other diseases with cutaneous involvement. As for the management of CM in children, the first intervention implies eliminating trigger factors. The available cures are oral H1 and/or H2 antihistamines, oral cromolyn sodium, oral methoxypsoralen therapy with long-wave psoralen plus ultraviolet A radiation, potent dermatocorticoid, and calcineurin inhibitors. In children, the prognosis of CM is excellent, especially if the disease’s onset is in the first or second years of life.

Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

“…Cutaneous mastocytosis (CM) occurs most commonly in childhood with a good prognosis [ 57 ]. Most cases occur before the age of two and often resolve spontaneously, unlike the adult counterparts which are usually associated with bone marrow disease [ 24 , 58 ]. Based on macroscopic features, distribution, and the timing of lesions, CM is subcategorized as maculopapular cutaneous mastocytosis (MPCM), also known as urticaria pigmentosa, diffuse cutaneous mastocytosis (DCM), and mastocytoma of the skin [ 57 ].…”

“…Darier’s sign is present in most cases of mastocytosis affecting the skin, although the absence of Darier’s sign does not rule out a diagnosis [ 60 ]. When occurring in childhood, the demonstration of cutaneous mast cell involvement is enough to support a diagnosis of CM without further evaluation; however, mastocytosis of the skin developing in adulthood is often an extension of SM, usually indolent SM, and warrants further diagnostic evaluation with a bone marrow biopsy [ 23 , 24 , 55 , 57 ].…”

“…Some mast cell disorders are associated with specific genetic mutations with resultant clonal disease ( Table 1 ). Such disorders include cutaneous mastocytosis, systemic mastocytosis (SM), its variants (indolent/ISM, smoldering/SSM, aggressive/ASM), and some forms of the recently described mast cell activation disorders or syndromes (MCAD or MCAS) [ 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ]. The latter include clonal mast cell activations disorders/CMCAS (also referred to as monoclonal mast cell activation syndromes/MMAS), mast cell activation secondary to allergic, inflammatory, or paraneoplastic disease, and idiopathic disorders [ 16 , 22 , 25 , 26 , 27 , 28 ].…”

Mastocitosis en un hospital público de Guatemala

“…La mastocitosis es una enfermedad que afecta principalmente a pacientes en edad pediátrica. Como mencionan Maldonado et al, [10][11][12] el signo de Darier es patognomónico de la enfermedad y se manifestó en la mayoría de nuestros pacientes. Por este motivo, es importante identificarlo cuando se tiene la sospecha clínica 2 .…”

“…El abordaje de la mastocitosis debe comprender exámenes de laboratorio (triptasa sérica total), biopsia de piel (si es necesario apoyarse con pruebas inmunohistoquímicas) y una evaluación clínica completa 10,11 . La triptasa sérica es un marcador positivo para mastocitosis sistémica.…”