Congenital cutaneous mastocytosis

Abstract

A male term newborn presented with disseminated red macules and plaques. On day four of life, several large blisters evolved, excluding toxic erythema of the newborn. Cutaneous mastocytosis was confirmed by skin biopsy showing a dense infiltration of the dermis with mastocytes. The clinical picture was characterized by disseminated brown-red plaques and recurrent blister formation (Figure). Flushes were triggered by heat and breast-feeding. Serum tryptase, a key enzyme in the metabolism of histamine and, therefore, in the monitoring of the activity of mastocytes, was 64.2 (normal <13.5) μg/dL. Genetic analysis (restriction fragment length polymorphism method) was negative for the 10 most common mutations (c-Kit: D52N, V530I, V560G, A816V, D816V, D816Y, D816H, D816F, D820G, and D825A). Therapy with H1-(cetirizin 2mg/kg/d) and H2-blockers (ranitidine 10 mg/kg/d) was successful in reducing the intensity and frequency of flush events. After several months, skin lesions became paler, tryptase activity decreased to 23 μg/dL, and the boy is healthy and has developed normally. A male term newborn presented with disseminated red macules and plaques. On day four of life, several large blisters evolved, excluding toxic erythema of the newborn. Cutaneous mastocytosis was confirmed by skin biopsy showing a dense infiltration of the dermis with mastocytes. The clinical picture was characterized by disseminated brown-red plaques and recurrent blister formation (Figure). Flushes were triggered by heat and breast-feeding. Serum tryptase, a key enzyme in the metabolism of histamine and, therefore, in the monitoring of the activity of mastocytes, was 64.2 (normal <13.5) μg/dL. Genetic analysis (restriction fragment length polymorphism method) was negative for the 10 most common mutations (c-Kit: D52N, V530I, V560G, A816V, D816V, D816Y, D816H, D816F, D820G, and D825A). Therapy with H1-(cetirizin 2mg/kg/d) and H2-blockers (ranitidine 10 mg/kg/d) was successful in reducing the intensity and frequency of flush events. After several months, skin lesions became paler, tryptase activity decreased to 23 μg/dL, and the boy is healthy and has developed normally.