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This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.

This case study describes an extremely rare instance of androgen-secreting adrenocortical carcinoma in a patient with non-classical congenital adrenal hyperplasia.

This study found that in vivo and in vitro, citric acid metabolism through the CS-CA axis suppressed hair growth and induced inflammation and cell apoptosis in hair follicles, suggesting it as a potential therapeutic target.

This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.

This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.

This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.

This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.

This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.

This study developed a new clustering model to improve detection of drug-induced cognitive disorder risk signals, finding that it identified drugs with moderate risk signals, like Carbidopa/Levodopa, missed by traditional methods, enhancing clinical assessment comprehensiveness.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.

This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.

This study observed that the degradation product PTeCA significantly increased in hair treated with oxidative cosmetics, suggesting it could be a reliable marker for detecting such treatments, with a proposed PTCA cut-off value using PTeCA as the gold standard.

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.

This study found that ACOD1 deficiency in dermal papilla cells promotes mitochondrial dysfunction and contributes to cellular senescence in androgenetic alopecia, suggesting ACOD1 as a potential therapeutic target and 4-octyl itaconate as a promising treatment option for AGA.

Certain immune cells in atopic dermatitis skin could be targeted for treatment.

This study found that in patients with Alopecia Areata, CD27 and IL-35 levels were significantly higher in those with bacterial infections, suggesting they may be useful as immunological biomarkers.

This study found that carbonic anhydrase II was significantly upregulated in human keratinocytes when treated with toll-like receptor 3 agonist and Th2 cytokines, suggesting its potential role in inflammatory skin conditions.

In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.

This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.

This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.

This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.

This article reviews central centrifugal cicatricial alopecia, focusing on its multifactorial etiology and challenges in clinical diagnosis, and calls for more research and better treatment options.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

In this study, TCDD administered to male rats down-regulated EGF receptor in liver plasma membranes and increased protein kinase activity, suggesting EGF receptor–mediated toxicological effects.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.

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

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.