Diminished Protein-Bound ω-Hydroxylated Ceramides In The Skin Of Ichthyosis Patients With 12r-Lox Or Elox-3 Deficiency

Abstract

Autosomal recessive congenital ichthyoses (ARCI) 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 hypernatremic dehydration in infancy. ARCI are known to be caused by mutations in at least nine different genes which encode proteins involved in the formation of the epidermal barrier.

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