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Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis

Clinical Case Reports (2018) 6(9) 1834-1840
DOI: 10.1002/ccr3.1607
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Abstract

Diffuse cutaneous mastocytosis (DCM) is a rare but potentially fatal condition when diagnosis and targeted treatments are delayed. This case illustrates the life-threatening complications in DCM and reviews the currently available treatments. To our knowledge, this is the first report of mastocytosis with somatic K509I mutation and concomitant tuberous sclerosis.

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Otani, I. M., Carroll, R. W., Yager, P., Kroshinsky, D., Murphy, S., Hornick, J. L., … Walter, J. E. (2018). Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis. Clinical Case Reports, 6(9), 1834–1840. https://doi.org/10.1002/ccr3.1607

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