Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency

    February 2015 in “ ˜The œAmerican journal of pathology ”
    Robert Gruber, Jeffrey Sugarman, Debra Crumrine, Melanie Hupe, Theodora M. Mauro, Elizabeth A. Mauldin, Jacob P. Thyssen, Johanna M. Brandner, Hans Christian Hennies, Matthias Schmuth, Peter M. Elias
    TLDR Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
    The study investigated keratosis pilaris (KP) in 20 patients and 20 controls, focusing on abnormalities in sebaceous glands, hair shafts, and the epidermal barrier, with and without filaggrin (FLG) deficiency. It found that KP was associated with significant changes in these skin structures, including hyperkeratosis, hypergranulosis, mild T helper cell type 1-dominant inflammation, follicular plugging, absence of sebaceous glands, and hair shaft abnormalities, regardless of FLG status. The absence of sebaceous glands was suggested as an early step in KP pathogenesis, leading to subsequent hair shaft and epithelial barrier abnormalities. The study concluded that while FLG mutations increase the risk of KP, they are not solely responsible for the condition, with environmental and hormonal factors also playing a role.
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