21 citations
,
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.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
9 citations
,
May 2016 in “Veterinary dermatology” Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
3 citations
,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.