February 2024 in “BIOspektrum” This review discusses the latest molecular genetic insights into male-pattern hair loss and their potential applications in improving prediction and treatment, without reporting new clinical results.
September 2021 in “CRC Press eBooks” This review discusses dissecting cellulitis of the scalp and reports no new clinical findings.
February 2022 in “International journal of research in dermatology” This case series describes seven distinct hair shaft disorders, highlighting the importance of accurate diagnosis since these conditions are often treated incorrectly as alopecias without improvement.
September 2021 in “International Journal of Biomedicine” This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.
195 citations
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
49 citations
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October 2022 in “PubMed” This review examines alopecia, its causes, the impact of micronutrients, and the role of the Mediterranean diet, noting conflicting data and a need for more research on diet's effect on hair loss.
10 citations
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November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
May 2026 in “Indian Journal of Dermatology” This review provides an overview of genetics, causes, and treatment options for alopecia areata but reports no new clinical results and emphasizes the importance of support for those affected.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
18 citations
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January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
2 citations
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March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
August 2025 in “Andrology” In this study, the researchers reconstructed Abraham's family pedigree from the Bible's book of Genesis to explore potential medical or genetic explanations for reported cases of familial infertility, linking historical accounts with plausible scientific reasoning.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
December 2023 in “JCEM case reports” In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.
35 citations
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June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.
30 citations
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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.
8 citations
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November 2018 in “Australasian Journal of Dermatology” This study adds evidence suggesting a genetic component to frontal fibrosing alopecia, with daughters experiencing an earlier onset than their mothers, although the clinical pattern remains similar to non-familial cases.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
72 citations
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March 2005 in “British Journal of Dermatology” In this case series, researchers observed androgenetic alopecia in 20 prepubertal children with a strong genetic predisposition, despite the condition typically not occurring before puberty.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
68 citations
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October 2008 in “Archives of dermatological research” Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
2 citations
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December 2024 In this study, the researchers observed that the evolution of Curtobacterium flaccumfaciens pv. flaccumfaciens, which causes tan spot in Australian mungbeans, is driven by clonal expansion from existing genetic variations, emphasizing the need for informed breeding strategies to manage resistance against this pathogen.
Male pattern baldness is a common hair loss in men caused by genetics and hormones, with treatments including drugs, hair transplants, and hair loss products.
September 2008 in “Pediatric Rheumatology” This study reports that the symptoms and immunological findings in two children with diverse autoimmune-like conditions were ultimately attributed to lysinuric protein intolerance, confirmed by genetic analysis in one child.
This study reported the genotypic and allelic frequencies of seven SNPs associated with androgenetic alopecia in Mexican individuals, highlighting significant differences in one SNP between cases and controls in Western Mexico.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
44 citations
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September 2020 in “International Journal of Molecular Sciences” This review discusses the disruption of hormonal and metabolic rhythms in polycystic ovary syndrome and explores potential drug targets to address its molecular causes, without providing new clinical results.
7 citations
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November 2013 in “Pediatric and Developmental Pathology” This retrospective review of hair samples from pediatric patients indicated that microscopic hair examination might be a useful first-line investigation for diagnosing various genetic conditions.