308 citations
,
December 2018 in “PLOS Genetics” This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.
22 citations
,
January 2018 in “Experimental Dermatology” This article reviews insights into the pathogenesis of primary cicatricial alopecias, such as lichen planopilaris, provided by emerging technologies, but it does not report new clinical results.
April 2024 in “Dermatovenerologiâ, kosmetologiâ” This material provides comprehensive information about actinic keratosis, highlighting its potential outcomes, risk factors, clinical features, diagnosis, and treatment considerations for medical specialists.
April 2024 in “Dermatovenerologiâ, kosmetologiâ” This study provides a comprehensive overview of actinic keratosis, highlighting its potential to progress to squamous cell carcinoma and noting that routine treatment poses a significant burden on healthcare providers.
This study found that 62 plasma proteins are significantly associated with the risk of obstructive sleep apnea, offering potential targets for new therapeutic strategies.
6 citations
,
October 2024 in “International Journal of Dermatology” In this study, researchers conducted single-cell RNA sequencing to reveal that proinflammatory fibroblasts and vascular endothelial cells play significant roles in the immune microenvironment of keloids, suggesting potential targets for new therapeutic approaches.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
1 citations
,
March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
1 citations
,
January 2021 in “Advances in animal and veterinary sciences” This study observed a high prevalence of the dermatophyte M. canis in humans and pets in Egypt, particularly highlighting the potential for zoonotic transmission from dogs and cats to humans.
This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.
January 2024 in “Theranostics” This study found that HDAC6 plays a crucial role in regulating primordial follicle activation, with its overexpression delaying activation and preserving fertility by reducing NGF levels.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
November 2018 in “The Journal of Allergy and Clinical Immunology: In Practice” This report documents the successful use of theophylline in treating an 11-year-old girl with a rare immunodeficiency syndrome, suggesting potential in drug repurposing for primary immunodeficiency disorders and asthma.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
106 citations
,
March 2014 in “BioEssays” This review examines current knowledge on human epithelial hair follicle stem cells, their markers, and outlines challenges in translating findings from murine studies to human research, but does not report new experimental results.
21 citations
,
April 2025 in “MedComm” This review explores the complex factors involved in alopecia areata, such as immune and genetic influences, and discusses advances in diagnostic and therapeutic approaches, while reporting no new clinical results.
1 citations
,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study created a detailed spatial atlas of healthy human skin and basal cell carcinoma, revealing a potential hair follicle origin for basal cell carcinoma and expansion of certain mesenchymal cell populations.
February 2026 in “Dermatology and Therapy” This narrative review found that while AI-based tools in dermatology, particularly for hair disorder assessment, have potential to enhance clinical practice by improving objectivity and personalization, they currently serve mainly a complementary role and face challenges like methodological limitations and data bias.
September 2025 in “Animals” In this study, dermatophytosis was prevalent among 52% of dogs and 70% of cats with skin lesions, with younger animals facing higher infection risks; combined itraconazole, clotrimazole, supportive care, and vaccination led to the fastest recovery.
January 2024 in “Arquivo Brasileiro de Medicina Veterinária e Zootecnia/Arquivo brasileiro de medicina veterinária e zootecnia” This study reports that treating a feline with progressive pruritus, alopecia, and FIV infection with imidacloprid and moxidectin resulted in remission of clinical signs and elimination of Demodex cati mites, as confirmed by parasitological examination and genetic sequencing.
June 2011 in “Expert Review of Dermatology” Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
January 2024 in “Biochemical genetics” This study investigated the gene and protein expression differences in early and late feathering chickens, identifying several pathways, like JAK-STAT and WNT, potentially involved in non-Mendelian feather growth regulation.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
30 citations
,
June 2016 in “Journal of Human Genetics” 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.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
10 citations
,
October 2017 in “Pediatric neurology” This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
2 citations
,
April 2017 in “Journal of Investigative Dermatology” In this study, tofacitinib treatment led to significant hair regrowth in 60% of patients with moderate-to-severe alopecia areata, suggesting potential for JAK inhibitors in treating this condition.