Cutaneous mastocytosis in childhood

Abstract

Mastocytoses are characterized by clonal proliferation of mast cells in various tissues. In childhood, cutaneous mastocytosis (CM) occurs almost exclusively. It is confined to the skin, and has a good prognosis. The most common form is the maculopapular cutaneous mastocytosis (MPCM), formerly called urticaria pigmentosa. A distinction is made between a monomorphic variant of MPCM with multiple small, roundish maculopapular skin lesions and the – more common – polymorphic variant with larger lesions of variable size. One quarter of CM diagnosed in childhood are mastocytomas, which often occur solitary or at multiple sites. The diffuse variant of CM (DCM), which affects 5% of children with CM, should be distinguished from these forms. Systemic mastocytoses (SM) with mast cell infiltrates in the bone marrow or other extracutaneous tissues, such as the gastrointestinal tract, occur predominantly in adults. The diagnosis of CM is usually made clinically: Manifestation in infancy, typical morphology and distribution, pathognomonic Darier sign. Basal serum tryptase is determined if DCM or systemic mastocytosis are to be diagnosed. Children with mastocytosis should be managed in a specialized outpatient clinic. For affected families, detailed information about the clinical picture including prognosis assessment is essential. Mast cell mediated symptoms are controlled by oral non-sedating antihistamines if needed.

Itchy Red-Brown Spots on a Child

“…Cutaneous mastocytosis, the skin-restricted variant, is by far the most common form of childhood mastocytosis (90% of mastocytosis cases in children) 1 and generally appears within the first 2 years of life. [1][2][3][4][5][6][7] Pediatric CM usually is a benign and transient disease with an excellent prognosis and a negligible risk for systemic involvement. 2,3,5 The pathogenesis of CM in children is obscure 1 ; however, somatic or germline gain-of-function mutations of the c-KIT proto-oncogene, which encodes KIT (ie, a tyrosine kinase membrane receptor for stem cell factor), may account for most pediatric CM phenotypes.…”

“…[1][2][3][4][5][6][7] Pediatric CM usually is a benign and transient disease with an excellent prognosis and a negligible risk for systemic involvement. 2,3,5 The pathogenesis of CM in children is obscure 1 ; however, somatic or germline gain-of-function mutations of the c-KIT proto-oncogene, which encodes KIT (ie, a tyrosine kinase membrane receptor for stem cell factor), may account for most pediatric CM phenotypes. 1,3,6 Activating c-KIT mutations leads to constitutive activation of the KIT receptor (expressed on the surface membrane of mast cells) and instigates autonomous (stem cell factorindependent) clonal proliferation, enhanced survival, and accumulation of mast cells.…”

Clinical Cases: Diagnostic Errors of Mastocytosis Cutaneous Forms in Children

“…Алексеева 1 , Ю.Г. Левина 1,2 , А.Р. Панкова 1,2 КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ CLINICAL CASE https://doi.org/10.…”

“…Левина 1,2 , А.Р. Панкова 1,2 КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ CLINICAL CASE https://doi.org/10. 15690/pf.v19i3.2439 Клиническое наблюдение ОБОСНОВАНИЕ Мастоцитоз -группа редко встречающихся заболеваний, связанных с патологическим накоплением тучных клеток в тканях и органах.…”

“…При кожном мастоцитозе у детей скопления тучных клеток обнаруживаются только в коже, а мутация KIT играет второстепенную роль в отношении дальнейшего лечения. Наличие мутаций KIT подтверждает диагноз КМ, но не является диагностическим критерием СМ и предиктором прогрессирования заболевания у детей [1][2][3].…”