January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
January 2005 in “Experimental Dermatology” This abstract reviews recent findings on genetic factors in acne, highlighting the potential of genetic studies to advance understanding of its pathogenesis, but reports no new clinical results.
August 2026 in “Frontiers in Medicine” This article argues that esthetic dermatology could benefit from a more biologically informed approach through the integration of advanced biomarkers and imaging technologies, but cautions that many tools are not yet fully validated for clinical use.
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.
263 citations
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February 2020 in “International journal of molecular sciences” This paper discusses the potential roles of adipose tissue derived stem cells in skin regeneration and wound healing but emphasizes the need for further research on their effectiveness in clinical settings.
14 citations
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January 2025 in “Reproductive Medicine and Biology” This review emphasizes the importance of considering race and ethnicity-specific factors in diagnosing and treating polycystic ovary syndrome (PCOS) and calls for diagnostic criteria tailored to these differences.
3 citations
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March 2024 in “Journal of Dermatological Treatment” Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
April 2023 in “Journal of Investigative Dermatology” This study found that using 3D total body imaging with convolution neural networks accurately identifies risk phenotypes for melanoma, suggesting improved objective stratification for early detection and prevention.
October 2023 in “Dermatology practical & conceptual” In this case report, folliculitis decalvans with frontal fibrosing alopecia was observed in a patient with a dark phototype, highlighting the phenotypic spectrum of folliculitis decalvans and lichen planopilaris.
23 citations
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March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
8 citations
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April 2015 in “British Journal of Dermatology” This report describes two cases of white piedra caused by Trichosporon inkin in a northern climate, detailing clinical findings and diagnosis without presenting new experimental results.
February 2026 in “Expert Review of Endocrinology & Metabolism” This review discusses the dermatologic manifestations and management of polycystic ovary syndrome, underscoring the need for mechanism-based, personalized treatments and integrated mental health support, but reports no new clinical results.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
3 citations
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January 2021 in “Journal of The American Academy of Dermatology” This study observed that atopic dermatitis severity was associated with higher eosinophil counts and FLG variants, suggesting distinct endotypes that may require tailored treatment approaches.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
November 2025 in “Skin Health and Disease” This review identifies 33 genetic syndromes associated with alopecia areata in children, with 67% fully genetically elucidated, and highlights their clinical features, providing insights that may aid in early prediction, diagnosis, and personalized treatments.
21 citations
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March 2023 in “Journal of Crohn s and Colitis” This study suggests that microvascular damage and platelet deregulation may persist in ulcerative colitis patients even during remission, remaining as disease-associated molecular signatures.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
May 2026 in “International Journal of Drug Delivery Technology” This study reports that using machine learning models, particularly XGBoost and Random Forest, can accurately predict PCOS phenotypes based on non-invasive data, with cycle length as the most significant predictor.
In this study of Andean Ecuadorian women with PCOS, phenotypes A and B were more prevalent and associated with higher risks of insulin resistance, anovulation, and metabolic disorders compared to phenotypes C and D.
35 citations
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April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
16 citations
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February 2016 in “Gynecological Endocrinology” This study observed two distinct phenotypes among North Indian women with PCOS: obese hyperinsulinaemic dysglycemic women from Delhi and lean hyperandrogenic women from Srinagar, despite being in the same region.
9 citations
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January 1997 in “Endocrine Journal” This study found a significant association between patients' sex of rearing and external genitalia in those with gonadal dysgenesis, while noting lower testosterone levels compared to controls.
This study found that higher scores of hair loss on the Hamilton-Norwood scale correlated with increased hair gain in the conchal bowl in men, suggesting potential age-related adaptations beyond cosmetic concerns.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
December 2022 in “Nepal Journal of Obstetrics and Gynaecology” This study found that anovulatory PCOS was the most common phenotypic variant among women with menstrual irregularities seeking treatment, and no cases of obese PCOS were observed.
This study observed that women with PCOS had significant differences in body composition and some physiological markers compared to healthy women, which may have implications for pregnancy outcomes and long-term health risks.
January 2023 in “Dermatology” This review summarizes biological links between aging and androgenetic alopecia, particularly focusing on cellular senescence, and discusses potential therapeutic strategies, but reports no new clinical results.