Changes in the abundance and organization of lipid lamellae (LL) stratum corneum (SC) are proposed to underly barrier dysfunction conditions such as psoriasis, atopic dermatitis ichthyosis. However, there few reports on LL diseased SC. The current investigation tested hypothesis that is altered omega-O-acylceramide metabolism defects associated with congenital Pnpla1 Alox12b knockout mice were ...

CASE REPORT A 33-year-old woman with superficial and deep bilateral corneal vascularization and keratoconjunctivitis sicca, keratoerythema and neurosensory deafness, was diagnosed with keratitis-ichthyosis-deafness (KID) syndrome. DISCUSSION KID syndrome is a congenital ectodermal dysplasia characterized by the association of vascularizing keratitis, hyperkeratotic skin lesions and sensorineu...

The stratum corneum (SC) of the epidermis acts as a skin permeability barrier, and abnormalities in SC formation lead to several disorders. Lipids, especially epidermis-specific ceramide classes ?-O-acylceramides (acylceramides) protein-bound ceramides, are essential for barrier formation. Ceramide synthase 3 (CERS3) is involved synthesis acylceramides CERS3 mutations cause autosomal recessive ...

INTRODUCTION Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated succes...