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A specific gene mutation causes woolly hair and hair loss.

This report describes a rare case of porokeratotic eccrine ostial and dermal duct nevus in a 64-year-old woman, successfully treated with CO₂ laser, highlighting its potential occurrence in older adults.

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.

In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.

In this study, researchers found that the absence of type I or type II keratins in mice leads to severe skin barrier defects, highlighting keratins' crucial role in epidermal structure and function.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

This study suggests that short telomeres may produce similar aging-related symptoms across different segmental progeroid syndromes, offering potential insights into normative aging processes.

This review examines the clinicopathologic features of perifollicular elastolysis and indicates that, while its presentation is consistent, there is a lack of high-certainty evidence for effective treatments.

This article reviews the role of epidermal proteins and their complex gene families in maintaining skin integrity and highlights insights gained from genetic studies and mouse models, without providing new clinical results.

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.

This study suggests that ELF5 plays a crucial role as a regulator and maintainer of stem/progenitor cell functions, impacting normal skin development and homeostasis.

This study found that exogenous EGF inhibited hair follicle development and decreased follicle density in both Tabby and normal mice, suggesting interactions between EGF and the Ta peptide influence normal skin phenotype.

This study highlights the distinct distribution patterns of extracellular matrix components in the scalp skin of male and female androgenetic alopecia patients, with increased elastin staining intensity observed in male cases.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

This review examines how mesenchymal stem cells and their derivatives may enhance skin regeneration and rejuvenation, but it reports no new clinical results; the authors suggest iPSC-derived MSCs hold promise for future therapies.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.

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

This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.

This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.

PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.

This review discusses the significance of elastic tissue staining in dermatopathology, particularly for diagnosing primary elastic tissue disorders and other skin conditions, but reports no new clinical results.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

This study found that COL17 deficiency in neonatal mice causes abnormal skin cell proliferation due to disrupted Wnt signaling, while replenishing or overexpressing COL17 can reverse this effect in both neonatal and aged skin.

This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.