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This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.

This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.

This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.

This letter to the editors describes a case of diffuse congenital hypotrichosis simplex with associated hair shaft fragility but reports no new clinical findings.

Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.

This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

In this case study, a 46-year-old woman with tattoos and a history of hypothyroidism developed autoimmune-like symptoms, highlighting the importance of distinguishing ASIA syndrome from other immune disorders and assessing potential adjuvant exposure.

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 highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

Hair shaft changes may be linked to CCCA, but their role is unclear.

This study introduces "alopecia areata in a male or female pattern distribution" as a new clinical subtype of alopecia areata, observed in three adult cases, to enhance diagnostic precision and treatment personalization.

In this study, Far2-/- mice were observed to develop focal alopecia with altered sebaceous gland morphology and lower skin lipid levels compared to wildtype mice.

In this study, safusidenib erbumine was evaluated for its efficacy and safety in patients with untreated IDH1-mutated WHO grade 2 gliomas, achieving a 44.4% objective response rate and 87.9% 24-month event-free probability, but with some mild to moderate adverse effects.

This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.

This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.

This article reports that the ISHRS has formed a committee to register hair restoration outcomes in patients with cicatricial alopecia and other hair diseases, without presenting new research findings.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.

In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.

This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.

In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.

This case study reports that a 52-year-old woman with Sheehan syndrome improved after receiving hormone replacement therapy, highlighting its importance for patients with similar symptoms.