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This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.

This case report aims to raise physician awareness about 'toe-tourniquet' syndrome, which can lead to digit loss if not promptly treated, and to prevent its misdiagnosis as child abuse.

This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.

In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.

This study found that trichothiodystrophic hair shows reduced and disoriented protein deposition in follicles, with both the cuticle and cortex affected, providing localized structural insights into keratin abnormalities.

This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.

This study optimized a screening assay to identify molecules that inhibit or enhance TRPM5 ion channel activity, which may have implications for treating dysfunctions linked to cardiac arrhythmias and diabetes.

This article describes a case of localized trichorrhexis nodosa in a patient with otherwise normal hair, highlighting the condition's response to trauma and diagnostic process but reporting no new clinical findings.

In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.

This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.

In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.

Lack of TrkC receptor delays hair follicle development.

This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.

This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.

This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.

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 study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.

This study found that in a transgenic mouse model, a modified form of β-catenin inhibited normal hair follicle development and promoted epidermal cyst formation, revealing distinct effects on Wnt signaling.

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

This review discusses managing common and notable adverse events associated with the antibody-drug conjugate trastuzumab deruxtecan in patients with HER2-positive unresectable/metastatic breast cancer and reports no new clinical results.

In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.

This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.

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.

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

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 found that trichorrhexis nodosa, a common cause of unexplained hair loss, is primarily caused by trauma rather than a metabolic defect.