Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

Abstract

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Superimposed type 2 segmental atopic dermatitis: case series and review of the literature

“…In conclusion, we present three cases of superimposed segmental AD, supporting the existence of this rare and often treatment‐resistant form of AD. Segmental forms of common disorders may be instrumental in the identification of critical elements in the pathogenesis of these conditions, eventually leading to targeted treatment as recently demonstrated 10 . Somatic mutations may underlie a large array of both cutaneous and extracutaneous disorders, further emphasizing the importance of postzygotic genetic events to human pathologies 11 …”

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders

“…To date, mosaicism of CARD14 mutations has been reported in two cases, and a GJA1 mutation in one case. 4,5 We aimed to identify the genetic cause of five cases referred for a genetic analysis under the diagnosis of ILVEN through whole exome sequencing.…”

“…The linear/blaschkoid distribution of ILVEN suggests that a somatic mutation in keratinocyte precursor cells during embryogenesis underlies its pathogenesis. To date, mosaicism of CARD14 mutations has been reported in two cases, and a GJA1 mutation in one case 4,5 …”