BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease of cornification which presents as severe thickening of the palms and soles with prominent epidermolytic hyperkeratosis pathologically. Recent studies have shown that EPPK is caused by mutations in the keratin 9 (K9) gene which is expressed essentially only in the palms and soles. Previously, We have reported that patients in one large pedigree of EPPK have an R162W substitution in the K9 protein. In this pedigree, two women whose husbands are both EPPK patients had become pregnant. OBJECTIVE: Since both women were concerned about this genetic disorder, we have performed prenatal diagnosis by biopsy analysis of chorionic villi tissue. METHODS: Chorionic villi biopsies were performed at 12 weeks gestation. Since the skin lesions are strictly confined to the palms and soles of the babies, the prenatal diagnosis of EPPK by ultrastructural analysis of fetal skin biopsy or amniotic fluid cells is highly problematic. Polymerase chain reaction amplification of specific allele (PASA) assay and direct DNA sequencing analyses were performed whether the fetuses carried mutant allele of K9 gene. RESULTS: PASA assay and direct DNA sequencing analyses showed that one fetus was normal, but the other fetus carried the abnormal allele. Subsequently, the mother of the unaffected fetus delivered a normal child, but the mother of the affected fetus terminated the pregnancy. CONCLUSION: We describe the analysis of the K9 mutation in the two fetuses at risk for EPPK. We believe that this is the first report of prenatal diagnosis for EPPK. But, we have to think about the ethical problems before we decide to perform the prenatal diagnosis of any kind of skin diseases.
Alleles ; Amniotic Fluid ; Biopsy ; Child ; Chorionic Villi ; Chorionic Villi Sampling ; Female ; Fetus ; Humans ; Hyperkeratosis, Epidermolytic ; Keratin-9 ; Keratoderma, Palmoplantar, Epidermolytic* ; Mothers ; Pedigree* ; Polymerase Chain Reaction ; Pregnancy* ; Prenatal Diagnosis* ; Sequence Analysis, DNA ; Skin ; Skin Diseases ; Spouses

BACKGROUND/OBJECTIVES: Weight loss via a mobile application (App) or a paper-based diary (Paper) may confer favorable metabolic and anthropometric changes. SUBJECTS/METHODS: A randomized parallel trial was conducted among 57 adults whose body mass indices (BMIs) were 25 kg/m 2 or greater. Participants randomly assigned to either the App group (n = 30) or the Paper group (n = 27) were advised to record their foods and supplements through App or Paper during the 12-week intervention period. Relative changes of anthropometries and biomarker levels were compared between the 2 intervention groups.Untargeted metabolic profiling was identified to discriminate metabolic profiles. RESULTS: Out of the 57 participants, 54 participants completed the trial. Changes in body weight and BMI were not significantly different between the 2 groups (P = 0.11). However, body fat and low-density lipoprotein (LDL)-cholesterol levels increased in the App group but decreased in the Paper group, and the difference was statistically significant (P = 0.03 for body fat and 0.02 for LDL-cholesterol). In the metabolomics analysis, decreases in methylglyoxal and (S)-malate in pyruvate metabolism and phosphatidylcholine (lecithin) in linoleic acid metabolism from pre- to post-intervention were observed in the Paper group. CONCLUSIONS In the 12-week randomized parallel trial of weight loss through a App or a Paper, we found no significant difference in change in BMI or weight between the App and Paper groups, but improvement in body fatness and LDL-cholesterol levels only in the Paper group under the circumstances with minimal contact by dietitians or health care providers.Trial Registration: Clinical Research Information Service Identifier: KCT0004226