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This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.

This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.

The trial helped find the best dose of deuruxolitinib for treating alopecia areata.

This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.

This abstract reports that topical minoxidil is currently the only FDA-approved treatment for pattern hair loss in both men and women.

This study found that X-irradiation causes hair dysplasia through two mechanisms influenced by oxygen, and cystamine injections after irradiation enhance this effect.

This case report highlights the significance of alopecia totalis and knuckle pad hyperpigmentation as early indicators of azathioprine-induced myelosuppression and pancytopenia.

This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.

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 that co-administering glucocorticoids with 5α-reductase inhibitors exacerbated the adverse metabolic effects of glucocorticoids in healthy men.

This letter to the editor discusses data from a study on troglitazone for lipodystrophy, noting significant increases in subcutaneous fat without dietary changes.

In this study, thalamic GABAA receptor α4 subunit levels were regulated after acute and chronic ethanol exposure, with temporal expression changes affected by phosphorylation state and neuroactive steroids.

This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.

This study reported a case of acute kidney injury and toxic contact dermatitis in a 25-year-old woman following exposure to a glyoxylic acid-containing hair straightening product, highlighting glyoxylic acid's potential role in cutaneous and renal complications and underscoring the need for stronger regulation and awareness.

The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.

This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.

This meta-analysis found that deuruxolitinib significantly improved hair regrowth and patient satisfaction in those with moderate to severe alopecia areata compared to placebo, though it was associated with manageable side effects such as elevated creatinine kinase levels, headaches, and acne, especially at higher doses.

This study reports that a novel series of compounds can potently and selectively inhibit glycogen synthase kinase-3, which activates glycogen synthase in insulin receptor-expressing cells and primary rat hepatocytes.

This study suggests that among GLP-1 agonists, liraglutide and exenatide are linked to the highest rates of gastrointestinal issues, including potentially pancreatitis-related enzyme changes noted in animal models.

This study found that the dehydroepiandrosterone hydroxylating enzyme system in hair follicles is similar to the liver monooxygenase system, sharing characteristics such as inhibition by carbon monoxide and dependency on NADPH.

This study found that hair analysis is an effective non-invasive method for assessing metabolic fluctuations, showing stable advanced glycation end products levels that correlate with age and differ significantly between diabetic and non-diabetic rats.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

This review examines microbial production and applications of gluconic acid, focusing on the enzymatic processes involved, and offers no new experimental results.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

In this study, researchers found that both thermolabile and thermostable forms of phenol sulfotransferase contribute to the sulfation of minoxidil, emphasizing the need to consider both enzymes in assessing sulfation in human tissues.

This study reveals that transglutaminase activity is widespread in integumentary structures of mammals and birds, suggesting it plays a significant role in the cornification of hard skin appendages like nails and feathers.

Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.

This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.

This study investigated the formation of a specific chemical crosslink in hair proteins and explored the role of transamidase enzymes in hair follicles.

In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.