2 citations
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April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
December 2025 in “Plastic & Reconstructive Surgery” This study found that the Bioengineered Exosomal Hair Growth Factors Complex (BEHC™) enhanced human follicle dermal papilla cell proliferation and reduced inflammatory markers in vitro, while significantly decreasing hair shedding and increasing hair density among participants with androgenetic alopecia in an open-label clinical study.
36 citations
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July 2007 in “Journal of Investigative Dermatology” This study observed a strong negative association between the HLA-DQB1*0201 allele and the alopecia totalis/alopecia universalis phenotype in Caucasian individuals, indicating a potential protective role.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
September 2023 in “Journal of the American Academy of Dermatology” In this study, researchers found that Hispanic/Latino patients in the USA were diagnosed with melanoma at younger ages and at more advanced stages than non-Hispanic/Latino Whites, which contributed to lower melanoma-specific survival rates among Hispanics/Latinos.
3 citations
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August 2024 in “British Journal of Dermatology” This study observed sustained hair regrowth in some patients with alopecia areata and improvement in vitiligo symptoms, indicating a potential role for dupilumab in treating these conditions, particularly when associated with atopic dermatitis.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
37 citations
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April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
13 citations
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April 2015 in “Human Reproduction” Obese Hispanic women with PCOS are at higher risk for metabolic problems than non-Hispanic white women.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
December 2017 in “Elsevier eBooks” This study suggests that unliganded vitamin D receptors in mice may cause more severe skeletal and mineral ion defects than VDR-null conditions, and vitamin D analogues may restore function in specific VDR mutations.
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
June 2026 in “Lasers in Medical Science” This randomized trial found that diode laser achieved more favorable long-term hair removal outcomes but induced more discomfort and transient adverse effects compared to intense pulsed light in women with Fitzpatrick skin types I-IV.
June 2013 in “International Journal of Dermatology” This study found that among HIV-infected women, central lipohypertrophy was associated with shorter eyelashes but not changes in scalp hair texture or inflammation.
18 citations
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January 1985 in “Acta Obstetricia Et Gynecologica Scandinavica” In this study of hirsute women, researchers found that correlations between hirsutism and hyperandrogenism were observed only in patients with a low LH/FSH ratio.
19 citations
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March 2011 in “The Journal of Dermatology” This case report in a child suggests that lichen planus pemphigoides may represent a heterogeneous group of disorders, potentially triggered by conditions like varicella.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
January 2011 in “Guangdong Medical Journal” This study observed that Vitamin D receptor expression at protein and mRNA levels was significantly lower in the hair follicles of alopecia areata patients compared to healthy individuals.
51 citations
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November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
January 2026 in “Nutrición Hospitalaria” In this study, researchers identified significant signals indicating previously unrecognized risks of lipid metabolism abnormalities for several drugs, urging the need for better monitoring and label updates.
3 citations
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May 2018 in “The American Journal of Medicine” This case report describes a 33-year-old woman with long-standing scalp issues and hair loss, revealing an unusual connection to past melanoma, but it presents no new research results.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
May 2025 in “International Journal of Trichology” This retrospective study in a tertiary hair clinic concluded that routine monitoring of heart rate, weight, liver, and kidney function is not necessary for asymptomatic patients with normal baseline values undergoing low-dose oral minoxidil treatment, although monitoring is advised for those with preexisting renal impairment.
7 citations
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November 2007 in “Annales de Dermatologie et de Vénéréologie” A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
3 citations
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January 2020 in “Indian Journal of Dermatology” This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.
1 citations
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November 2024 in “Blood” This study found that inhibiting the PI3Kδ enzyme in murine models of cutaneous chronic graft-versus-host disease (cGVHD) reduced skin scores and fibrosis, prevented pathogenic lymphoid structures, and improved survival, suggesting it as a promising therapeutic approach to address the disease's hypoxic pathophysiology.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
January 2022 in “World journal of pharmaceutical sciences” In this study, irregular menstruation was observed as the most common clinical manifestation of polycystic ovarian disorder in the subjects, followed by dermatologic symptoms like hirsutism and acne.