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

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 mastocytosi...

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Autores principales: Otani, Iris M., Carroll, Ryan W., Yager, Phoebe, Kroshinsky, Daniela, Murphy, Sarah, Hornick, Jason L., Akin, Cem, Castells, Mariana, Walter, Jolan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132108/
https://www.ncbi.nlm.nih.gov/pubmed/30214774
http://dx.doi.org/10.1002/ccr3.1607
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author Otani, Iris M.
Carroll, Ryan W.
Yager, Phoebe
Kroshinsky, Daniela
Murphy, Sarah
Hornick, Jason L.
Akin, Cem
Castells, Mariana
Walter, Jolan E.
author_facet Otani, Iris M.
Carroll, Ryan W.
Yager, Phoebe
Kroshinsky, Daniela
Murphy, Sarah
Hornick, Jason L.
Akin, Cem
Castells, Mariana
Walter, Jolan E.
author_sort Otani, Iris M.
collection PubMed
description 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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spelling pubmed-61321082018-09-13 Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis Otani, Iris M. Carroll, Ryan W. Yager, Phoebe Kroshinsky, Daniela Murphy, Sarah Hornick, Jason L. Akin, Cem Castells, Mariana Walter, Jolan E. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-07-31 /pmc/articles/PMC6132108/ /pubmed/30214774 http://dx.doi.org/10.1002/ccr3.1607 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Otani, Iris M.
Carroll, Ryan W.
Yager, Phoebe
Kroshinsky, Daniela
Murphy, Sarah
Hornick, Jason L.
Akin, Cem
Castells, Mariana
Walter, Jolan E.
Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis
title Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis
title_full Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis
title_fullStr Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis
title_full_unstemmed Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis
title_short Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis
title_sort diffuse cutaneous mastocytosis with novel somatic kit mutation k509i and association with tuberous sclerosis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132108/
https://www.ncbi.nlm.nih.gov/pubmed/30214774
http://dx.doi.org/10.1002/ccr3.1607
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