Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.
We have linked Herlitz's junctional epidermolysis bullosa (H-JEB) to the gene (LAMC2) encoding the gamma 2 subunit of nicein/kalinin, an isolaminin (laminin-5) expressed by basal keratinocytes. In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta = 0 was observed between a microsatellite near LAMC2 at 1q25-31 and the disease. In one family, a homozygous point mutation leading to a premature stop codon (CGA to TGA) was identified in exon 3 of the gene. The segregation of the mutated allele implicates the mutation in the pathology of the disorder and corroborates the linkage results.
To analyze studies on oral treatment of toenail onychomycosis so as to aid clinicians and patients in making informed decisions. Data Sources: Studies dealing with treatment of toenail onychomycosis were identified by means of 2 MEDLINE search strategies. One was a title search using the word "toenail"; the other search used the combined Medical Subject Headings "onychomycosis" and "therapy." Study Selection: Articles were read to ascertain that they (1) described results in toenails, (2) used both culture and microscopy, and (3) included a clinical evaluation. Not included were case reports, series of fewer than 15 subjects, reports that combined fingernail onychomycosis and toenail onychomycosis in their statistics, and articles reporting only the total number of toenails cured without providing data as to how many subjects were cured. Data Extraction: This elimination process left 26 articles , which were then analyzed by means of a checklist that included a morphologically normal nail, mycological findings, and methodological items including recurrence rate, intent-to-treat analysis, placebo group, and whether terms were defined. Data Synthesis: When there was sufficient data, the frequency with which the treatment achieved normal mycological results, a clinically normal nail, and a disease-free nail (normal-appearing nail plus normal mycological results) was calculated. Confidence intervals were calculated for disease-free nail results. Conclusions: Standard courses of terbinafine achieved a disease-free nail in approximately 35% to 50% of patients. For itraconazole, the relevant disease-free nail rate was about 25% to 40%. Disease reappearance is an important issue; unfortunately data are lacking as to its frequency.
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