Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.

BACKGROUND: Epidermodysplasia verruciformis (EV) is a genodermatosis leading to infections with cutaneous HPV, persistent plane warts and a high rate of non-melanoma skin cancer (NMSC). Biallelic loss-of-function mutations in TMC6 and TMC8 are known to be causative. OBJECTIVE: The aim of this study was to report EV-causing mutations in four patients with EV and to give an overview of all described patients with EV. PATIENTS AND METHODS: We investigated four patients with classical features of EV from two families. All patients were affected by plane warts with typical EV histology since early childhood, and ß-HPVs were detected on their skin. One patient had recurring cutaneous squamous cell carcinomas (cSCC) and carcinomas in situ (Bowen type). We sequenced both TMC6/8 for disease-causing mutations and quantified levels of gene expression. We also performed a systematic literature review to discuss these patients in the context of previously reported cases, mutations already identified, as well as HPV types. RESULTS: Three patients of one family carried a homozygous splice site mutation in TMC8 resulting in aberrantly spliced transcripts that were not degraded. By contrast, no TMC6/8 mutation was detected in the patient from the other family. A systematic literature review revealed 501 described patients with EV. Around 40% of patients with EV analysed for genetic alterations carried no mutation in TMC6/8. While ß-HPVs were identified in the majority of cases, α-HPVs were detected in several individuals. CONCLUSION: The relatively high proportion of EV patients without mutation in TMC6/8 indicates the existence of EV-causing mutations in additional, presently unknown gene(s). However, a homozygous TMC8 splice site mutation in our patients resulted in aberrant transcripts which cannot retain the healthy phenotype. The literature review revealed that HPV-5 is the most commonly identified HPV in patients with EV, but HPV-3, HPV-14 and HPV-20 were unexpectedly identified more frequently than HPV-8.

Acne: prevalence and relationship with dietary habits in Eskisehir, Turkey.

BACKGROUND: Acne vulgaris is a common disease affecting adolescents. There is not comprehensive data on acne prevalence in the Central Anatolia Region in particular. Etiology of acne is not clarified yet. Acne might be related to environmental factors. There is increasing evidence supporting acne and diet relationship. OBJECTIVES: The aim of the study was to determine the acne prevalence in adolescents in the city of Eskisehir, located in the Central Anatolia, Turkey in addition to evaluate factors affecting acne and its relationship with dietary habits. METHODS: A cross-sectional study was conducted on 2300 participants aged 13-18 years. The participants were asked to complete a questionnaire form consisting information about acne and a questionnaire form consisting information about dietary habits (The Adolescent Food Habits Checklist). In addition an objective evaluation of acne was determined. RESULTS: The mean age of students with acne was 15.10±1.53. The current acne prevalence was 60.7%. Although 21% of the participants had severe acne (grade 3-4) and 25% developed sequelaes, only 11.5% of all participants consulted a doctor. The participants without acne had healthier dietary habits than participants with acne (P<0.05). Frequent fat intake (OR=1.39, 95% CI: 1.06-1.82), frequent sugar intake (OR=1.30, 95% CI: 1.05-1.60), frequent eating sausages, burgers (OR=1.24, 95% CI: 1.03-1.48), frequent eating pastries, cakes (OR=1.20, 95% CI: 1.01-1.43) were associated with increased risk for acne. CONCLUSIONS: Acne prevalence is high among adolescents in Eskisehir but the rate of consulting doctor is low. Increasing public awareness is critical for convincing adolescents to seek medical help earlier. Acne was related with dietary habits. Fat, sugar and fast food consumption is found to be positively correlated with acne prevalence.