Molecular Genetic Dissection of ILVEN Leads to Successful Targeted Therapy

    September 2019 in “ Journal of Investigative Dermatology ”
    M. Riachi, Paulina Stadnik, Satyamaanasa Polubothu, Shawn Martin, Carolyn Charman, Feiran Cheng, Karolina Gholam, Olumide Ogunbiyi, David G. Paige, Neil J. Sebire, Alan Pittman, W-L Di, Veronica A. Kinsler
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    Studysummary This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab. Our plain-language summary of this paper — not a Tressless recommendation.
    The document discusses several studies on skin conditions and hair loss. One study identified a genetic variant of aldo-keto reductase (AKR) 1C3 that may predispose individuals to psoriasis. Another study found elevated polyamine levels in the vertex hair of patients with pattern hair loss, suggesting its potential as a biomarker. The key study reported the identification of mosaic mutations in the CARD14 gene as the cause of Inflammatory linear verrucous epidermal naevus (ILVEN), and patients with ILVEN experienced significant improvement when treated with Ustekinumab, an IL12/IL23-inhibitor. Additional research covered in the document includes the causes of cerebriform sebaceous nevus, the use of CRISPR/Cas9 for treating recessive dystrophic epidermolysis bullosa, and the role of specialized ribosomes in the senescence of human dermal fibroblasts.
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