87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
15 citations,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
72 citations,
October 1992 in “Archives of Dermatology” Recognizing certain rashes can lead to earlier cystic fibrosis diagnosis and better outcomes.
10 citations,
January 2016 in “Dermatology online journal” Adults with persistent scalp issues unresponsive to typical treatments should be tested for the fungal infection tinea capitis to start the right antifungal medication.