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Some chemicals absorbed through the skin can cause serious health problems.

This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.

This study reviewed and categorized dermatological drugs for pregnancy and lactation according to new FDA labeling guidelines, which replaced simplistic letter categories with detailed information, aiming to improve prescribing decisions by addressing both maternal and paternal reproductive potential.

This review suggests the existence of a new syndrome characterized by keratosis pilaris, ulerythema ophryogenes, and monosomy 18p, emphasizing its potential utility in diagnosing monosomy 18p.

This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.

This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.

This study reported that mice on a phenylalanine-deficient diet showed symptoms such as weight loss, gastric dilation, and thymic depletion, which echo human phenylalanine deficiency manifestations.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.

This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.

This study analyzed self-reports from discussion forums to categorize and understand adverse effects experienced by individuals using finasteride, suggesting a need for further investigation into post-finasteride syndrome.

In this study, researchers analyzed spaceflight data from various sources and found that skin issues during spaceflight are linked to DNA damage, mitochondrial dysregulation, and gene alterations, while also highlighting the skin's adaptability post-flight.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.

This article discusses the diagnostic and therapeutic approach for immune-mediated central nervous system diseases but reports no new clinical findings.

This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

This case report describes the first known instance of hereditary choreiform disorder associated with and aggravated by systemic lupus erythematosus, highlighting the need for vigilance in diagnosing co-existing autoimmune conditions.

Understanding skin structure and development helps diagnose and treat skin disorders.

The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.

This article reviews the therapeutic use of carnitine derivatives for re-establishing mitochondrial functionality in aging and reports no new clinical results.

This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.

In this study, TENS of the T6 dermatome over a longer term was explored for its effects on weight, blood pressure, heart rate, and appetite-regulating hormones in obese subjects with moderate obstructive sleep apnea; however, results are not reported in the abstract.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

This review highlights the medicinal potential and pharmacological activities of the plant Plumbago zeylanica, while emphasizing the critical need for mass propagation methods to address its over-exploitation and support the development of novel herbal medicines.

In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.