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

Publication ,  Journal Article
Otani, IM; Carroll, RW; Yager, P; Kroshinsky, D; Murphy, S; Hornick, JL; Akin, C; Castells, M; Walter, JE
Published in: Clin Case Rep
September 2018

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.

Duke Scholars

Published In

Clin Case Rep

DOI

ISSN

2050-0904

Publication Date

September 2018

Volume

6

Issue

9

Start / End Page

1834 / 1840

Location

England

Related Subject Headings

  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 30 Agricultural, veterinary and food sciences
 

Citation

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ICMJE
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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. Clin Case Rep, 6(9), 1834–1840. https://doi.org/10.1002/ccr3.1607
Otani, Iris M., Ryan W. Carroll, Phoebe Yager, Daniela Kroshinsky, Sarah Murphy, Jason L. Hornick, Cem Akin, Mariana Castells, and Jolan E. Walter. “Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis.Clin Case Rep 6, no. 9 (September 2018): 1834–40. https://doi.org/10.1002/ccr3.1607.
Otani IM, Carroll RW, Yager P, Kroshinsky D, Murphy S, Hornick JL, et al. Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis. Clin Case Rep. 2018 Sep;6(9):1834–40.
Otani, Iris M., et al. “Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis.Clin Case Rep, vol. 6, no. 9, Sept. 2018, pp. 1834–40. Pubmed, doi:10.1002/ccr3.1607.
Otani IM, Carroll RW, Yager P, Kroshinsky D, Murphy S, Hornick JL, Akin C, Castells M, Walter JE. Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis. Clin Case Rep. 2018 Sep;6(9):1834–1840.
Journal cover image

Published In

Clin Case Rep

DOI

ISSN

2050-0904

Publication Date

September 2018

Volume

6

Issue

9

Start / End Page

1834 / 1840

Location

England

Related Subject Headings

  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 30 Agricultural, veterinary and food sciences