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This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

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 study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.

This letter to the editor shares a case study of lentiginous melanoma that appears clinically malignant but histopathologically benign, involving the BRAFV600R mutation.

This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

A new mutation in the HR gene causes hair loss in a specific family.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.

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.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.

This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This case study reports an unusual presentation of primary cutaneous diffuse large B-cell lymphoma–leg type occurring on the upper lip of an 81-year-old woman, highlighting the need for timely recognition of atypical manifestations.

This article reports on lentiginosis observed within plaques of linear atrophoderma of Moulin and discusses its potential classification as a twin-spotting phenomenon but provides no new clinical research results.

This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.

This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.

This article reviews lip reconstruction techniques after Mohs surgery, presenting an algorithm to aid decision-making based on defect location and tissue involvement, and reports no new clinical results.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.