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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 found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.

This study links scalp pruritus in lichen planopilaris and its variants to the inflammation-induced release of substance P and calcitonin gene-related peptide by sensory nerves around hair follicle inflammation sites.

This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.

This study highlights that while advances in dermatology, such as biologics and JAK inhibitors, have improved treatments for conditions like atopic dermatitis and psoriasis, challenges remain, including issues with lasting efficacy and the need for more personalized therapies.

This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.

This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.

LIPH mutations cause woolly hair in some Chinese people.

This review discusses the connection between acne and metabolic syndrome, noting shared pathogenic mechanisms and suggesting integrated management strategies without presenting new clinical results.

This review identifies that anaerobic bacteria from the gut and oral microbiota, not typical skin pathogens, are frequently present in hidradenitis suppurativa lesions, suggesting a role in inflammation and potential treatment targets.

This review discusses the potential link between gut microbiota alterations and the onset and progression of alopecia areata, identifying it as a possible pathogenetic factor and therapeutic target, but reports no new clinical results.

In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.

This study found that donor age and culture medium significantly impact the quality of human full-thickness skin models, with implications for their use as animal model alternatives in research.

This review highlights that the skin microbiota plays a crucial role in wound healing, with beneficial microorganisms aiding tissue repair and opportunistic pathogens hindering it, potentially guiding future microbiome-targeted therapies.

This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.

Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.

This study reports that variable environmental factors, including dietary habits, may contribute to the increasing incidence and diverse clinical presentations of frontal fibrosing alopecia.

In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.

This study found that Ifidancitinib, a JAK1/3 inhibitor, significantly promoted hair regrowth and reduced inflammation in a mouse model of alopecia areata by decreasing pathogenic T cell activity and inducing T cell exhaustion.

This review examines the role of autoinflammation and immune dysregulation in hidradenitis suppurativa, linking it to genetic factors and autoinflammatory syndromes, but highlights the need for further research to fully understand its pathogenic mechanisms.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

This study found that patients with androgenetic alopecia showed distinct scalp bacterial imbalances compared to healthy individuals, which were associated with unhealthy lifestyles. These microbial changes might contribute to follicular inflammation, potentially accelerating hair loss in these patients.

This review article explores the potential systemic nature of alopecia areata, highlighting the association with ocular abnormalities and suggesting that shared pathogenic pathways may lead to eye symptoms occurring at younger ages than usual.

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.

In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.

This review discusses the etiology, pathogenesis, clinical presentation, and treatment of frontal fibrosing alopecia, noting the lack of clinical trial data and limited observational treatment results.