Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. Clinical diagnosis of the EB subtypes is frequently imprecise and requires confirmation with genetic testing. There is still limited study using genetic testing to identify EB subtypes in Indonesia. This study aims to identify the pathogenic variants of inherited EB patients at the Department of Dermatology and Venereology, Universitas Padjadjaran-Dr Hasan Sadikin General Hospital in Bandung, West Java, Indonesia and to describe the correlation between the phenotype and genotype of our patients. METHODS: Twelve patients clinically diagnosed with EB were included in this study. Genetic testing was performed in collaboration with KK Women's and Children's Hospital, Singapore. RESULTS: Pathogenic variants were identified in the COL7A1 gene in seven patients, namely Dominant Dystrophic EB (DDEB) with mutation types c.5945G>T, c.6218G>A, Recessive Dystrophic EB (RDEB) c.2005C>T, c.6081dup, c.1268C>T, c.1784C>T which are all known mutations. Novel mutations were found in the COL7A1 gene in two patients namely DDEB c.6253G>T and RDEB c.6740C>T. Two EB Simplex (EBS) patients showed mutation KRT14 gene as c.356T>C, c.373C>T which are known mutation. In addition, a novel mutation in LAMA3 gene c.2649del was found in one Junctional EB (JEB) patient. CONCLUSION: The molecular diagnoses of 12 Indonesian EB patients were identified, of which three were novel pathogenic variants. Concordance between the initial clinical diagnosis and genetic testing was only 33%. This demonstrated the importance of early genetic testing for accurate diagnosis, prognostication, management and genetic counselling.

Clinical efficacy of dialkylcarbamoylchloride-coated cotton acetate dressing versus combination of normal saline dressing and 2% mupirocin ointment in infected wounds of epidermolysis bullosa.

Dialkylcarbamoylchloride (DACC)-coated cotton acetate dressing works directly through hydrophobic interaction to reduce the number of bacteria without the risk of resistance. It is easy to use and therefore expected to improve patient's compliance. This study aimed to assess the clinical efficacy of DACC-coated cotton acetate dressing compared to a combination of normal saline dressing and 2% mupirocin ointment. A single-blind controlled trial was conducted and included 14 infected epidermolysis bullosa (EB) wounds which were divided into two groups. Group I received DACC-coated cotton acetate dressing, and Group II received the combination of normal saline dressing and 2% mupirocin ointment. Study results showed that the average time required for complete wound closure was 8.6 and 11.1 days in Groups I and II, respectively (p = .014), which was statistically significant. Both groups showed complete bacterial elimination on Day 3 based on negative Gram stain results and on Day 6 based on clearance of clinical manifestations (p = 1.000). This is a novel study in EB-infected wounds, which shows that DACC-coated cotton acetate dressing promotes faster wound closure and is as effective as the combination of normal saline dressing and 2% mupirocin ointment in eliminating bacterial infection.