A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. We report two siblings with ARCI. They were found to carry a novel aetiological TGM1 mutation, which leads to the synthesis of multiple abnormal transcripts. These molecules resulted from three independent mechanisms: intron retention, exon skipping and activation of expand cryptic splice sites. Taken together, our findings expand the known TGM1 mutation repertoire, and provide an insight into the molecular mechanisms leading to ARCI phenotypes. These results could be useful for genetic counselling and future potential genotype-phenotype correlations.

Naftifine cream in the treatment of cutaneous candidiasis.

Naftifine, a member of a new class of synthetic antifungal drugs, the allylamines, was evaluated for the treatment of cutaneous candidiasis. In a double-blind, parallel-group clinical trial, sixty patients with cutaneous candidiasis were randomly assigned to receive either naftifine cream 1 percent or its vehicle twice a day for three weeks. Two weeks after the end of therapy, 77 percent of the naftifine-treated patients were mycologically cured (negative results on potassium hydroxide preparations and culture) and had no clinically apparent disease, compared with 3 percent of the patients treated with vehicle (p less than 0.001). Side effects reported with naftifine cream were few and minor.

The treatment of dermatophytoses of the glabrous skin: a comparison of undecylenic acid and its salt versus tolnaftate.

In a double-blind study, the efficacy of 1% tolnaftate cream, 3% undecylenic acid and its zinc salt, and a placebo cream were tested in dermatophytosis of the glaborous skin and groin. Ninety-seven subjects completed the study: 33 received tolnaftate, 23 of these subjects were cured clinically and mycologically. Thirty-two subjects received 3% undecylenic acid and 20% zinc undecylenate as a cream. Of these, 21 were cured clinically and mycologically. Only three of the 32 subjects receiving placebo were cured clinically and mycologically. Both tolnaftate and undecylenic acid and its zinc salt are effective in this condition.

Treatment of "tinea pedis" with griseofulvin and topical antifungal cream.

A protocol for determining the antifungal efficacy of systemic or topical drugs in tinea pedis is presented. In this study, (1) no patient had concomitant onychomycosis; (2) the clinical types were separated into (a) plantar scaling, (b) intertriginous, and (c) vesicular instep; (3) the soles were treated for three months (time related to the shedding of all stratum corneum); (4) the follow-up period for soles was three months (related to characteristics of the drug and its depot effect on the target area, the horny layer); (5) the final evaluation related to the percentage of patients "clinically and mycologically cured" at the end of the follow-up period. With this protocol, ultramicrosize griseofulvin (Gris-PEG) alone, topical clotrimazole (Lotrimin) alone, and a combination of the two were tested in seventy-three patients with tinea pedis. The results were as follows: for plantar scaling type of tinea pedis, the combination was not better than griseofulvin alone; for intertriginous tinea pedis, the combination was definitely better than griseofulvin alone; and topical 1 percent clotrimazole was much less effective than griseofulvin.