A Cross-Sectional Questionnaire Survey on the Impact of Congenital Ichthyosis on Lifelong Education and Career.

A cross-sectional analysis was conducted to evaluate the impact of ichthyosis symptoms on the educational achievement and career choices of adults, or the potential future impact on children. A total of 77 respondents completed a questionnaire assessing the degree to which ichthyosis had impacted, or was expected to impact, their education and career. Responses were categorized as "none," "somewhat," or "greatly.

Prevalence of FOXA1 and ERBB2 activating mutations in extramammary Paget's disease: A retrospective multicenter analysis of 99 cases from Japanese and Taiwanese cohorts.

Background: Extramammary Paget's disease (EMPD) occurs in areas where apocrine glands are abundant. EMPD is associated with the known somatic hotspot mutation g.chr14:38064406 G>A in the promoter region of FOXA1 and S310F in ERBB2.

Development of an enzyme-linked immunosorbent assay for the efficient detection of autoantibodies against nuclear valosin-containing protein-like protein (NVL) 2 using its manipulated cDNA.

Purpose: Antinuclear valosin-containing protein-like protein (NVL) antibodies have been detected only in systemic sclerosis (SSc) patients, and diverse comorbidities have been reported in anti-NVL antibody-positive SSc patients. Any relationship between antibodies against NVL1, a minor isoform of NVL, and the clinical symptoms also remains unclear. To clarify the clinical features of anti-NVL2 antibody-positive patients, we developed an ELISA for measuring antibodies against NVL2, a major target of autoantibodies against NVL.

The First Reported Japanese Case of PNPLA1-Nonsyndromic Epidermal Differentiation Disorder (PNPLA1-nEDD) Associated With an Unreported 92-Base-Pair Duplication Variant.

Autosomal recessive congenital ichthyosis (ARCI) is a rare inherited skin disorder marked by generalised scaling and erythema. Very recently, diseases formerly diagnosed as ichthyosis, including ARCI, have been renamed nonsyndromic epidermal differentiation disorders (nEDDs). Although pathogenic variants in various genes, including PNPLA1, have been identified as causes, regional and ethnic differences exist in their prevalence.

The origin of hydroxy-cyclohexenone fatty acids from skin barrier protein and relevance to covalent binding of ceramides.

Lipid constituents of the skin permeability barrier include a portion of ceramides and fatty acids covalently bound to the barrier protein. The covalent binding requires enzymatic oxidation of linoleate (C18:2) esterified to skin-specific acylceramides, forming a reactive 9,10-epoxy-11E-13-keto derivative. Barrier proteins treated with alkali release the bound lipids and as described recently, including two prominent cyclic linoleate derivatives, C18 hydroxy-cyclohexenone fatty acids.

Selumetinib for symptomatic, inoperable plexiform neurofibromas in pediatric patients with neurofibromatosis type 1: the first single-center real-world case series in Japan.

Objective: In Japan, selumetinib is used in pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibroma (PN). However, there have been no real-world reports on Japanese patients. In this study, we reported a single-center, short-term experience with selumetinib after its approval in Japan.