Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We previously localized a gene for a subset of NCIE to chromosome 3 (designated "the NCIE2 locus"), in six families. Lipid droplets were found in five of these six families, suggesting a diagnosis of CDS. Four additional families selected on the basis of a confirmed diagnosis of CDS also showed linkage to the NCIE2 locus. Linkage-disequilibrium analysis of these families, all from the Mediterranean basin, allowed us to refine the NCIE2 locus to an approximately 1.3-Mb region. Candidate genes from the interval were screened, and eight distinct mutations in the recently identified CGI-58 gene were found in 13 patients from these nine families. The spectrum of gene variants included insertion, deletion, splice-site, and point mutations. The CGI-58 protein belongs to a large family of proteins characterized by an alpha/beta hydrolase fold. CGI-58 contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. Interestingly, CGI-58 differs from other members of the esterase/lipase/thioesterase subfamily in that its putative catalytic triad contains an asparagine in place of the usual serine residue.

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33-35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous in eight consanguineous families and heterozygous in one non-consanguineous family. Four of these mutations are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins. The ABCA12 protein belongs to a superfamily of membrane proteins that translocate a variety of substrates across extra- and intracellular membranes. ABCA transporters have been implicated in several autosomal recessive disorders, notably of lipid metabolism. By analogy with ABCA3, a lamellar body membrane protein in lung alveolar type II cells, ABCA12 could function in cellular lipid trafficking in keratinocytes.

This study clearly demonstrates the effectiveness of the well-tolerated broad-spectrum sunscreen evaluated, in the prevention of the development of chloasma in pregnant women.

In an open pilot study, 12 children with tinea capitis were treated for 6 weeks with oral terbinafine (125 mg/day), and followed up 2 weeks later. The study was conducted to evaluate the efficacy, safety and pharmacokinetics of terbinafine. All patients were completely cured at the end of the treatment period, and there was no evidence of relapse at follow-up. Seven had a negative culture after 3 weeks of treatment. The time to obtain culture conversion from positive to negative did not appear to be related to body weight, but to clinical severity at baseline. Terbinafine is well tolerated and safe over a 56-day period. The kinetic data show a higher clearance of terbinafine in children compared with adults, with shorter alpha- and beta-phase elimination half-lives. However, a longer terminal gamma-phase (at least 6 days) is observed, as in adults, after multiple dose administration, and this is related to elimination from the tissues. The plasma concentrations are comparable between children and adults at a steady state (125 mg/day).

Cutaneous tuberculosis is still a common disease in Morocco, and scrofuloderma and gumma are the most common clinical presentations.