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

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 mix...

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Veröffentlicht in:Pediatric dermatology 2023-03, Vol.40 (2), p.337-340
Hauptverfasser: Kranyak, Allison, Shuler, Marshall, Williams, Kelli W., Wine Lee, Lara
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container_title Pediatric dermatology
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creator Kranyak, Allison
Shuler, Marshall
Williams, Kelli W.
Wine Lee, Lara
description 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.
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subjects atopic dermatitis
Atopy
Autonomic nervous system
Case reports
Cell activation
Child
Connective tissues
Dermatitis
Eczema
Female
hereditary alpha tryptasemia
Humans
Hypersensitivity
Hypersensitivity, Immediate
mast cells
Pediatrics
pruritus
tryptase
urticaria
title Case report of severe refractory inflammatory dermatoses in a young female diagnosed with hereditary alpha tryptasemia
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