Successful management of a case of diffuse cutaneous mastocytosis with recurrent anaphylactoid episodes and hypertension

Abstract

Rationale Diffuse cutaneous mastocytosis (DCM) is a rare form of mastocytosis characterized by a diffuse mast cell infiltration of the skin frequently associated with complications due to mast cell (MC) degranulation, which include bleeding, severe diarrhea, hypotension, and shock. Methods A 4-month-old male was diagnosed of DCM at birth. At 6-months he was admitted to the Intensive Care Unit (ICU) due to recurrent anaphylactoid episodes with hypotension, generalized erytrodermia, bullae, blistering formation, occasional bronchospasm and bleeding. Increased blood pressure, requiring antihypertensive therapy, was noted between episodes. Bone marrow study showed MC with the aberrant immunophenotype (CD2+/CD25++). Baseline total serum tryptase levels were 30.9 ng/ml and higher than 1,000 ng/ml during anaphylactoid episodes. Despite treatment with sedating and non-sedating H1 and H2 blockers, disodium cromoglycate and prednisone (for three weeks), life-threatening hypotensive episodes recurred, requiring epinephrine, mechanical ventilation and continued sedation. Twice weekly oral psoralen plus UV-A therapy (PUVA) was begun and a total dose of 40 J were delivered. Results A dramatic response was obtained after PUVA therapy with progressive decrease of hypotensive episodes and bullae formation. At 25 months, he is growing and developing well without anaphylactoid episodes, and his blood pressure is normal without therapy. The skin has markedly improved and tryptase levels are normal. Conclusions The combined use of H1 and H2 blockers, sodium cromoglycate, and PUVA was remarkably effective in this case and should be considered in cases of DCM suffering from life-threatening anaphylactoid episodes.