Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern

Abstract

Autosomal dominant lamellar ichthyosis (ADLI) is a recently recognized genetic skin disorder. Clinically and histologically, it cannot be distinguished with certainty from the more frequent autosomal recessive lamellar ichthyosis (ARLI), which in itself may still be heterogeneous. By ultrastructural examination of ADLI a prominent transforming zone between the stratum granulosum and stratum corneum and lipid inclusions in the stratum corneum have been observed. Using sequential high‐performance thin‐layer chromatography, we studied the plantar scale lipid pattern of two patients, mother and daughter, affected with ADLI. We found a distinctive alteration in the relative composition of the scale lipid pattern characterized by excessive amounts of free fatty acids, triglycerides, elevated n‐alkanes, reduced free sterols and decreased total ceramides. This scale lipid profile clearly differs from that of the erythrodermic and non‐erythematous variants of ARLI and confirms that this disorder is a distinct entity of the heterogeneous group of lamellar ichthyoses.

Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family

“…Autosomal recessive congenital ichthyosis (ARCI) have the prevalence of 1 in 200 000 newborns 1,2 . Lamellar ichthyosis (OMIM 242500) and non‐bullous congenital ichthyosiform erythroderma (NBCIE) (OMIM 242100) constitute the two major subtypes of ARCI, although a spectrum of phenotypes lies in between.…”