Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

“…and developed an intermediate structure midway between lamellar granules and lipid vacuoles. Similarly structured granules resembling both lipid vacuoles and lamellar granules have previously been reported in di¡erent neurocutaneous syndromes associated with ichthyosis and abnormal lipid metabolism (Koone et al, 1990). Finally, these intermediate structured granules underwent transformation into lipid vacuoles within the granular cells and corni¢ed cells.…”

Detection of Hexanol Dehydrogenase Activity in the Epidermis of a Patient with Sjögren‐Larsson Syndrome

“…We describe a patient with typical clinical features of SLS who showed demonstrable hexanol dehydrogenase activity within the epidermis, as in normal skin, which is in sharp contrast to the cases reported byJudge et al, in which they reported that all of the seven patients with typical SLS showed deficient hexanol dehydrogenase activity within the epidermis (5). This may suggest, together with the report by Koone et al (4), that SLS is a heterogeneous disease including FAD positive and negative patients.…”

Stratum Corneum Acidification Is Impaired in Moderately Aged Human and Murine Skin

“…Abnormal SC acidification can provoke multiple defects in epidermal function, including delayed permeability barrier recovery after external perturbations, and abnormal SC integrity, as shown in young adult mice (Hachem et al, 2003), and confirmed here for moderately aged mice. Moreover, our results show that decreased SC acidity downregulates pH-activated BGC enzyme activity, required for processing secreted lipids into functional lipid bilayers (Koone et al, 1990;Holleran et al, 1993). In addition, the increase in SC pH impairs SC integrity by upregulating the pH-sensitive serine proteases, which in turn, accelerate the degradation of SC CDs (Hachem et al, 2003).…”