Case report of severe refractory inflammatory dermatoses in a young female diagnosed with hereditary alpha tryptasemia

Abstract

Hereditary alpha tryptasemia (HaT), an autosomal dominant condition first described in 2014, has previously been associated with multiple dermatologic, allergic, gastrointestinal, neuropsychiatric, autonomic, and connective tissue abnormalities. We describe a pediatric patient with predominantly mixed cutaneous inflammatory manifestations and atopic manifestations resistant to treatment who was found to have HaT. HaT should be considered in individuals with refractory inflammatory dermatologic disease and signs and/or symptoms concerning for mast cell activation.

Keywords: atopic dermatitis; eczema; hereditary alpha tryptasemia; mast cells; pruritus; tryptase; urticaria.