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This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.

In this study, the 308-nm excimer lamp was reported to be a safe alternative treatment for alopecia areata, with a 41.1% overall response rate and a 50% response rate in severe cases.

In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This report discusses a request for a health hazard evaluation at Equifax in St. Petersburg, Florida concerning potential workplace exposures related to reported employee health issues, particularly hair loss, but provides no new results.

This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

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This source evaluates the clinical effectiveness of 308 nm monochromatic excimer phototherapy in treating moderate-to-severe alopecia areata, noting that both laser and lamp methods show promise without significant risks.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This case report describes a 40-year-old woman who developed erythema annulare centrifugum, a type of skin rash, likely triggered by taking the drug aceclofenac.

This study found that the computer-controlled RV-01 scalp cooling device helped prevent significant hair loss in metastatic breast cancer patients treated with eribulin, with none of the 16 patients requiring a wig and experiencing minimal discomfort.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.

This case study reports a previously undescribed cause of drug-induced autoimmune hepatitis triggered by para-aminobenzoic acid (PABA), emphasizing the need for caution with this supplement.

This study reports a case of a patient with neuromyelitis optica spectrum disorders treated with eculizumab who developed fatal sepsis after insulin resistance emerged.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.

This study evaluated a new high-power, 810 nm diode laser for hair removal, finding it to be effective and safe, with a mean hair reduction of 74.4% in one session, and noted it worked efficiently on both large and small areas with minimal side effects.

TEDAR is crucial for skin cell differentiation and barrier formation.

This study introduced a viscoelastic dry electrode that successfully reduces motion artifacts in EP monitoring on hairy skin, maintaining stable performance for up to 48 days.

The excimer laser may help hair regrow in alopecia areata patients.

In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.