A Corrective Cosmetic Improves the Quality of Life and Skin Quality of Subjects with Facial Blemishes Caused by Skin Disorders.

BACKGROUND: Facial blemishes resulting from skin disorders have a significant effect on the patient's self-esteem and impact quality of life (QOL). AIM: To assess the impact of a corrective cosmetic (CC) on QOL on top of skin quality parameters. METHODS: An international observational study was conducted on subjects with visible facial flaws that would benefit from a corrective cosmetic. Investigators collected data regarding demographics, QOL using the Skindex-16 scale, skin dryness and tautness, subject and investigator satisfaction, cosmetic acceptability and tolerance at baseline and after 4 to 6 weeks of daily use. RESULTS: A total of 1840 subjects participated; the mean age was 31.5±11.1 and 95% were women. Acne accounted for 48.9% of skin conditions, followed by melasma (16.7%) and rosacea (15.3%). Of the subjects 81.2% had at least 10% of the face affected and the condition was rated as disfiguring by 45.3% of the subjects; 45.0% and 44.4%, respectively, had neither taut nor dry skin at baseline. Baseline Skindex-16 scores for symptoms, emotions, functioning and overall were 1.4±1.3, 3.5±1.6, 2.4±1.8 and 2.4±1.3, respectively, on a scale from 0 to 6. Compliance was 96.0±10.6%. At the end of the study, Skindex-16 scores had significantly (p<0.0001) improved for all parameters, as did skin dryness and tautness. Subject and investigator satisfaction were high or very high; cosmetic acceptability was high or very high and local tolerance good or very good. CONCLUSION: The tested corrective cosmetic significantly improved the QOL of subjects with significant facial flaws, skin tautness and dryness, and was well tolerated.

The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.

Trichothiodystrophy, also called sulphur-deficient brittle hair syndrome, is a rare autosomal recessive genetic disorder of DNA repair and transcription. Trichothiodysthrophy is characterised by dry, thin, easily broken hair, showing alternating light and dark pattern called 'tiger tail' banding under polarizing light microscopy. According to our knowledge, our report is the first one on this rare disorder from Hungary: a case of a 9-year-old boy showing clinical features typical of trichotiodystrophy. Sequence analysis of the ERCC2 gene identified two recurrent trichothidodystrophy missense heterozygous mutations - c.934G/A p.Asp312Asn (CM015299) and c.2251A/C p.Lys751Gln (CM004814) - suggesting compound heterozygous state of the patient and confirming the clinically suspected diagnosis of trichothiodystrophy.