July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
37 citations
,
June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
3 citations
,
March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
1 citations
,
September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” This paper presents a case of a young male with a family history, showing overlap between ulerythema ophryogenes and keratosis follicularis spinulosa decalvans, affecting both eyebrows and scalp with cicatricial patchy alopecia.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
24 citations
,
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.
45 citations
,
April 2018 in “Nature Reviews Urology” This review discusses the molecular mechanisms of masculinization involving androgen signaling and their roles in male embryonic development and conditions like hypospadias and prostate cancer, and reports no clinical results.
14 citations
,
December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
658 citations
,
June 2003 in “Endocrine reviews” This review discusses the role of androgens in the progression of cardiovascular disease and explores novel therapeutic targets without reporting new clinical results.
49 citations
,
January 2003 in “American Journal of Clinical Dermatology” This review discusses various pediatric hair loss conditions and treatments, highlighting the importance of a holistic approach and noting that no single treatment is universally effective.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
January 2017 in “Qucosa (Saxon State and University Library Dresden)” This study found that plasma protein binding significantly contributes to the shifts in glucocorticosteroid concentration ratios among blood, saliva, and hair, challenging prior assumptions about enzyme inactivation as the main factor.
30 citations
,
July 2023 in “Journal of Cutaneous Medicine and Surgery” This article emphasizes the need for dermatology to treat gender identity, gender, and sex as distinct factors, aiming to improve patient-specific risk assessment and treatment alignment, and highlights a research gap in distinguishing sex and gender as separate risk factors in the field.
January 2009 in “Hair transplant forum international” This article involves an interview with dermatologist Rodney Sinclair and provides no new research findings.
8 citations
,
July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
2 citations
,
August 2020 in “CRC Press eBooks” This article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.
December 2010 in “Vestnik dermatologii i venerologii” This article reviews molecular and genetic mechanisms in the development of androgenic alopecia and examines the relationship between androgen receptor gene polymorphism and androgen-dependent diseases, but reports no new clinical results.
In this study, the authors reported that certain SNPs on chromosome 20 were associated with androgenetic alopecia in the ethnic Han population of Yunnan, with specific alleles linked to higher likelihood of developing the condition.
January 2026 in “Immunological Reviews” This review discusses sex differences in immune responses and highlights mechanisms involving sex hormones, X-linked genes, and X-Chromosome Inactivation, but reports no new clinical findings.
April 2011 in “Vestnik dermatologii i venerologii” This study found an association between 'short' CAG repeats in the androgen receptor gene and increased non-random X chromosome inactivation in women with androgenic alopecia.
2 citations
,
January 2008 in “Oxford University Research Archive (ORA) (University of Oxford)”
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
1 citations
,
September 2020 in “Journal of the Endocrine Society” Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.