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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Detalles Bibliográficos
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
Descripción
Sumario: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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