Abstract
Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Biopsy
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Child, Preschool
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DNA-Binding Proteins / genetics
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Disease Management
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Female
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Genetic Association Studies
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Genetic Predisposition to Disease
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Germ-Line Mutation
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Humans
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Lymphangioleiomyomatosis / diagnosis
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Lymphangioleiomyomatosis / drug therapy
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Lymphangioleiomyomatosis / genetics*
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Melorheostosis / diagnosis
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Melorheostosis / drug therapy
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Melorheostosis / genetics*
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Membrane Proteins / genetics
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Mutation*
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Proto-Oncogene Proteins p21(ras) / genetics*
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Pyridones
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Pyrimidinones
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Sirolimus
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Tomography, X-Ray Computed
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Treatment Outcome
Substances
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DNA-Binding Proteins
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KRAS protein, human
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LEMD3 protein, human
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Membrane Proteins
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Pyridones
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Pyrimidinones
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trametinib
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Proto-Oncogene Proteins p21(ras)
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Sirolimus