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- W2971364995 abstract "Inflammatory linear verrucous epidermal naevus (ILVEN) is a childhood disease characterised by Blaschko-linear erythematous scaly skin. It is highly pruritic, causes distressing disfigurement, and is so notoriously treatment-resistant that it forms part of the diagnostic criteria. The cause is unknown. Using deep next generation whole exome sequencing of affected skin and blood we discover here mosaic mutations in gene CARD14 as the cause of ILVEN in two patients with treatment-resistant disease. Dramatic clinical improvement was seen with IL12/IL23-inhibitor Ustekinumab, chosen as a direct result of the genetic finding, underlining the power of molecular characterisation alongside clinical diagnosis." @default.
- W2971364995 created "2019-09-12" @default.
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- W2971364995 date "2019-09-01" @default.
- W2971364995 modified "2023-09-26" @default.
- W2971364995 title "314 Molecular genetic dissection of ILVEN leads to successful targeted therapy" @default.
- W2971364995 doi "https://doi.org/10.1016/j.jid.2019.07.315" @default.
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