January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
13 citations
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October 2024 in “Scientific Reports” 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.
8 citations
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January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.
2 citations
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May 2023 in “Frontiers in immunology” This review highlights advances in understanding inflammatory memory in epidermal stem cells, focusing on their capacity to remember prior inflammatory responses and respond more quickly to future stimuli, potentially aiding strategies against skin-related diseases.
23 citations
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November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
150 citations
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October 2010 in “The American Journal of Pathology” This review discusses the pathogenesis and challenges in treating primary cicatricial alopecia, highlighting the need to understand immune protection collapse in hair follicle stem cells; it reports no new clinical results.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
January 2026 in “International Journal of Science and Research (IJSR)” This source discusses ichthyosis, a disorder causing dry, scaly skin, by exploring its genetic causes, potential systemic associations, and treatments, and correlates modern medical insights with Unani medicine principles focused on humoral balance and holistic care.
9 citations
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April 2023 in “Frontiers in immunology” This review discusses the current and emerging methods for profiling skin microbes to advance our understanding of the microbiome in skin disease, but it reports no new clinical findings.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.
47 citations
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January 2013 in “International Journal of Cosmetic Science” This review explores genetic and lifestyle factors influencing hair diversity and reports no new findings, calling attention to the potential for future discoveries in genetic and epigenetic research.
47 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review examines the pathogenesis of premature hair graying and potential treatment avenues, but reports no new experimental outcomes, highlighting ongoing research challenges and hopes for drug development.
36 citations
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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.
30 citations
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June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
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.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
Taking calcium may help elderly with osteoporosis, birth control with levonorgestrel doesn't increase heart attack risk, Salmonella can cause arthritis, a national ethics committee is recommended, and sulfasalazine might help with a hair loss condition.
15 citations
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September 2018 in “Medicine” This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
75 citations
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June 1999 in “Pediatric Clinics of North America” This review discusses the clinical features and therapeutic goals for teenagers with PCOS, emphasizing the need for further research into its causes and potential long-term health risks, but reports no new clinical results.
15 citations
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February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
February 2026 in “Frontiers in Endocrinology” In this case study, a woman with congenital adrenal hyperplasia experienced substantial improvement in musculoskeletal and neurobehavioral symptoms after low-dose testosterone therapy, highlighting its potential role in managing chronic glucocorticoid overtreatment effects.
May 2023 in “Journal of complementary medicine & alternative healthcare” The authors concluded that Ayurveda's concepts of eight undesired body types, such as hereditary obesity and albinism, align with modern genetic understanding, suggesting these traits have genetic predispositions as originally mentioned in ancient Indian medical texts.
5 citations
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February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
33 citations
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June 2016 in “Pediatric Dermatology” This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.
29 citations
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March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
15 citations
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December 2013 This study found that in men with androgenic alopecia, moderate to severe cases were associated with the AA genotype of rs1160312, blood vanadium concentrations, and regular consumption of soy bean drinks.