In recent years several new genes for autosomal recessive congenital ichthyosis (ARCI) have been identified. However, little is known about the molecular epidemiology and pathophysiology of this genetically and clinically heterogeneous group of severe disorders of keratinization. ARCI is characterized by intense scaling of the whole integument often associated with erythema. We and others have shown that mutations in ALOX12B and ALOXE3, coding for the lipoxygenases 12R-LOX and eLOX-3 predominantly synthesized in the epidermis, can underlie this rare condition. Here we have surveyed a large group of 250 patients with ARCI for mutations in these two genes. We have identified 11 different previously unreported mutations in ALOX12B and ALOXE3 in 21 ARCI patients from 19 unrelated families and demonstrated that mutations in the two genes are the second most common cause for ARCI in this cohort of patients. Examination of the molecular data revealed allelic heterogeneity for ALOX12B and two mutational hotspots in ALOXE3. Functional analysis of all missense mutations and a splice site mutation demonstrated that complete loss of function of the enzymes underlies the phenotype. Our findings further establish the pivotal role of the 12-lipoxygenase pathway during epidermal differentiation.

The present data point to the need for population-tailored mutation screening strategies in genetically heterogeneous genodermatoses, based on the relative prevalence of the disease subsets.

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71: 1200-6 Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H et al. (2006) Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxoslike syndrome.

Outbreaks of tinea capitis (TC) represent a major medical and economic burden. Population migrations have become a phenomenon of increasing relevance for medical conditions management. Given the recent massive arrival of immigrants, we sought to determine epidemiologic trends for TC among paediatric populations at the Tel Aviv Medical Center. We conducted a retrospective study of all TC cases diagnosed between 2010 and 2014 in a paediatric dermatology unit of a tertiary medical centre, serving as a referral centre for the paediatric refugee population from the great Tel Aviv area. Epidemiologic, clinical and treatment data including effectiveness and safety were reviewed. In all, 145 children met the inclusion criteria. Trend analyses showed increases in TC rates over the study period. Incidence rates were higher in boys than in girls. Children of African origin had the highest TC incidence rates as compared with other ethnic groups. Trichophyton violaceum and Microsporum audouinii were the predominant causative organisms. Treatment with griseofulvin was satisfactory in all cases. There was a significant increase in TC incidence rates in the Tel Aviv area over the study period. TV and MA were the predominant organisms. These trends may be a result of poor living conditions and crowded school premises.

The in vitro effect of nicotinamide on activation and proliferation of hepatic stellate cells suggests that nicotinamide may have a potential beneficial role in attenuation of liver fibrogenesis.