January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
August 2015 in “Free Radical Biology and Medicine” Nrf2 helps protect skin from damage but too much can cause skin problems.
Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.