Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman–Chanarin syndrome

Neutral Lipid Storage Leads to Acylceramide Deficiency, Likely Contributing to the Pathogenesis of Dorfman–Chanarin Syndrome

“…We recently reported a DCS patient with a, to our knowledge, previously unreported CGI-58 missense mutation (Ujihara et al, 2010), exhibiting abnormal barrier-related structures resembling other NLSDI patients (Demerjian et al, 2006). Both mild and severely affected ichthyotic SCs revealed increased TG and decreased FA levels in comparison with SC fraction from normal subjects (Ujihara et al, 2010).…”

“…Both mild and severely affected ichthyotic SCs revealed increased TG and decreased FA levels in comparison with SC fraction from normal subjects (Ujihara et al, 2010). Pertinently, the extent of the increase in TG levels correlated with site-specific differences in the severity of the dermatosis (Ujihara et al, 2010).…”

“…Neither cholesterol (Ujihara et al, 2010) nor total (bulk) Cer ( Figure 1a) content was altered. Yet, Cer comprises a family of at least 10 species in humans (Uchida and Holleran, 2008).…”

“…Therefore, we first investigated the lipid profiles in solvent extracts of SC from this DCS patient (Ujihara et al, 2010). Neither cholesterol (Ujihara et al, 2010) nor total (bulk) Cer ( Figure 1a) content was altered.…”

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis

“…Challenges related to the precise diagnosis of ARCI even with genetic tools Dorfman-Chanarin syndrome (DCS) is a rare autosomal recessive form of congenital ichthyosis, characterized by the presence of intracellular lipid droplets in multiple organs [39,40] (OMIM #275630). Liver dysfunction and mental retardation are major extra-cutaneous manifestations of DCS [41,42]. DCS patients often have mutations in ABHD5 (also termed as CGI-58), which encodes a/b hydrolase domain-containing 5 (ABHD5)/comparative gene identification 58 (CGI-58), an activator of adipose triglyceride lipase.…”