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This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.

This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.

In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.

This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

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.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.

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.

Some people have a genetic variation that makes them less effective at breaking down drugs.

This study observed that atopic dermatitis severity was associated with higher eosinophil counts and FLG variants, suggesting distinct endotypes that may require tailored treatment approaches.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.

This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.

This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.