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Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. Materials and Methods: A novel COL7A1 mutation was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation in the family and their in-vitro fertilization (IVF) embryos. Then, the PCR products were sequenced with Sanger sequencing to detect the alteration in the allele, and some embryos would go through NGS-based preimplantation screening for chromosomal abnormalities. Results: The established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus. Conclusion: The established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by COL7A1 mutations but wish to have healthy children. [ABSTRACT FROM AUTHOR]

Skin diseases have caused a heavy burden on the infected population worldwide. This study aimed to examine the health-related quality of life (HRQOL) among patients with different skin diseases and identify associated factors. A cross-sectional study with 430 participants was conducted at the Vietnam National Hospital of Dermatology and Venereology (NHD) from September to November 2018. The EuroQol-5 Dimensions-5 Levels (EQ-5D-5L) instrument was employed, which measures the EQ-5D index from five domains including mobility, self-care, usual activity, pain/discomfort, and anxiety/depression. Multivariate Tobit regression was adopted to determine factors that were associated with HRQOL (EQ-5D index). The rate of atopic dermatitis was the highest with 28.8%, following by contact dermatitis (17.0%) and skin fungal infections (13.0%). Regarding HRQOL, anxiety/depression was the most common health problem in patients with skin diseases (71.8%), following by pain/discomfort (63.6%). The mean EQ-5D index score was 0.73 (SD = 0.19). The lowest EQ-5D index scores were obtained for females with skin infections (mean = 0.52) and for males with psoriasis (mean = 0.59). Females had significantly lower scores compared to males (Coef. = -0.06; 95% CI = -0.11 to -0.01). Higher income and living in rural areas were also negatively correlated with the EQ-5D index. This study demonstrated the low HRQOL among patients with skin diseases in Vietnam and emphasized the vulnerability of patients with different socioeconomic statuses to their HRQOL., Competing Interests: The authors declare no conflict of interest.