February 2025 in “PubMed” This study found that although the global incidence of alopecia areata has risen since 1990, age-standardized rates have slightly decreased, with significant comorbidity associations varying by region.
March 2026 in “Saudi Journal of Pathology and Microbiology” This case report from Qatar highlights the failure of traditional diagnostic approaches in a young woman with severe hair loss, emphasizing the potential benefits of DNA-guided nutrigenomics and the importance of compassionate communication in addressing psychosocial distress.
January 2026 in “Forum Dermatologicum” This study systematically reviewed literature on paradoxical reactions during biologic treatments for psoriasis, identifying immune dysregulation mechanisms and diverse clinical manifestations, highlighting that mild cases often respond well to topical treatments, while severe cases may require switching to different IL-23 inhibitors.
78 citations
,
April 1994 in “Archives of dermatology” This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.
53 citations
,
June 2012 in “Annales d'Endocrinologie” This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.
23 citations
,
January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
19 citations
,
August 1999 in “European journal of endocrinology” This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
4 citations
,
March 2012 in “European journal of wildlife research” This study found that wire brush hair snares collected the most hair from Eurasian Lynx in controlled enclosures, suggesting potential for sampling genetic material from similar felid species.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.
2 citations
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May 2023 in “Veterinary Pathology” This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
June 2026 in “Health Science Reports” This study examined the genetic basis of alopecia areata by analyzing gene expression differences between patients and healthy controls, identifying critical pathways, hub genes, transcription factors, and miRNAs implicated in the disease, and suggesting potential targets for treatment.
July 2025 in “Frontiers in Medicine” In this case study, an 8-year-old boy with alopecia totalis experienced significant hair regrowth after baricitinib treatment, suggesting KRT74 variants may influence immune dysregulation in this condition.
April 2025 in “International Journal For Multidisciplinary Research” This study explores hypertrichosis, a condition of excessive hair growth, highlighting its classification, diagnostic methods, and potential treatments. The authors emphasize the importance of individualized approaches and further genetic research to enhance treatment options for this primarily cosmetic issue that can signal systemic diseases.
November 2024 in “JAAD Case Reports” In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
This study found no predictive link between mothers’ PCOS symptoms and the adolescent phenotype, but identified certain gene alleles associated with higher testosterone levels in affected adolescents.
June 2024 in “Archives of Dermatological Research” In this study, significant upregulation of the genes SFRP2 and PTGDS was found in bald hair follicles of female pattern hair loss patients compared to non-bald follicles, suggesting these genes may be biomarkers and play a role in hair loss for this condition.
October 2017 in “Springer eBooks” A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
January 2009 in “Egyptian Journal of Medical Human Genetics” This study, conducted among Egyptians, found a borderline significant association between the Stul polymorphism of the androgen receptor gene and androgenetic alopecia in males, with higher androgen receptor expression in balding scalp areas.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
4 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
75 citations
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September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
53 citations
,
January 2013 in “Journal of toxicologic pathology” This publication provides a standardized nomenclature for classifying microscopic lesions in laboratory rat and mouse skin, aiming to harmonize international toxicological research.
52 citations
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October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
30 citations
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October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
22 citations
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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.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
14 citations
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January 2018 in “Advances in Clinical Chemistry” This review discusses the evaluation of hyperandrogenemia in women and hypogonadism in men across different life stages and presents biomarkers used for diagnosing male hypogonadism, reporting no new clinical results.