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This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

The new anti-aging ingredient improves skin hydration, elasticity, and reduces wrinkles.

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.

This study found that GLI2 plays a key role in activating follistatin, an activin/BMP antagonist, in response to hedgehog signaling in human epidermal cells, with implications for hair follicle development and basal cell carcinoma.

In this study, HDAC inhibitors promoted the differentiation of rat C6 glioma cells through the production of 5α‐reduced neurosteroids, enhancing serotonin-stimulated BDNF gene expression.

This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.

In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.

This study found that ZDHHC13 deficiency in mice is associated with abnormal liver function, lipid metabolism issues, and impaired mitochondrial function, highlighting ZDHHC13's regulatory role in liver metabolism.

This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study indicates that the protein Bcl-2 has a dual role, protecting hair follicle stem cells from apoptosis during regeneration and promoting tumor formation under oncogenic stress.

In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.

This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.

This study found that overexpression of the metabolic enzyme PHGDH can promote cancer initiation and progression, highlighting its significant role in tumor cell proliferation and tumorigenesis.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

In a mouse study, Fr2 from Platycladus orientalis L. significantly enhanced hair growth, suggesting its potential as a natural therapeutic agent for hair regeneration.

This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.

In vitro skin models are improving but still need more innovation to fully replicate human skin.

This review discusses the role of adipokines in skin physiology and pathology, suggesting they may influence skin conditions and diseases through interaction with various skin cell types, but reports no new clinical results.

Adiponectin reduces hair pigmentation and affects hair growth signals.

This review highlights exosomes as a promising treatment for skin damage from UV light, infrared radiation, burns, and disorders due to their anti-inflammatory properties, ability to induce macrophage polarization, and acceleration of skin repair and regeneration.