Diminished protein‐bound ω‐hydroxylated ceramides in the skin of patients with ichthyosis with 12R‐lipoxygenase (LOX) or eLOX‐3 deficiency

A Dick, I Tantcheva‐Poór, V Oji, KA Giehl… - British Journal of …, 2017 - academic.oup.com
A Dick, I Tantcheva‐Poór, V Oji, KA Giehl, J Fischer, P Krieg, H Schneider, M Rauh
British Journal of Dermatology, 2017academic.oup.com
DEAR EDITOR, Autosomal recessive congenital ichthyoses (ARCIs) are a group of
hereditary skin disorders. The disease phenotype is associated with an impaired epidermal
barrier leading to increased transepidermal water loss, temperature instability and
hypernatraemic dehydration in infancy. 1 ARCIs are known to be caused by mutations in at
least nine different genes, which encode proteins involved in the formation of the epidermal
barrier. 2 Two of these genes, ALOX12B and ALOXE3, code for the epidermal …
DEAR EDITOR, Autosomal recessive congenital ichthyoses (ARCIs) are a group of hereditary skin disorders. The disease phenotype is associated with an impaired epidermal barrier leading to increased transepidermal water loss, temperature instability and hypernatraemic dehydration in infancy. 1 ARCIs are known to be caused by mutations in at least nine different genes, which encode proteins involved in the formation of the epidermal barrier. 2 Two of these genes, ALOX12B and ALOXE3, code for the epidermal lipoxygenases 12R-LOX and eLOX-3, which are known to be indispensable for barrier function and lipid metabolism in the skin. 3
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