April 2017 in “Journal of Investigative Dermatology” In this pilot study, researchers observed a correlation between clinical severity and histologic severity of lichen planopilaris, suggesting that an immunohistochemical scoring system could aid in grading disease activity.
64 citations
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February 1995 in “Journal of The American Academy of Dermatology” This report describes a case where hidradenitis suppurativa developed in a patient receiving lithium, adding to the recognized cutaneous side effects like psoriasis, acneiform lesions, and alopecia.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
This study found that lupus discoid lesions on the scalp are more common in females and are associated with a higher incidence of other autoimmune diseases compared to lesions in other areas.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
December 2025 in “ILDS-DEV” April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
July 2025 in “Ecotoxicology and Environmental Safety” This study found that higher levels of lead and molybdenum in hair were associated with an increased risk of dyslipidemia, while there was a significant interaction showing opposing effects of lead and cadmium on dyslipidemia risk among adults in China.
2 citations
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February 1990 in “PubMed” In this study, 1,25-dihydroxyvitamin D3 inhibited growth and promoted differentiation in normal hair follicle cells but did not affect cells from a patient with vitamin D-dependent rickets type II, assisting in potential rapid diagnosis of the condition.
1 citations
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September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
August 2020 in “European Journal of Dermatology” This study identified three EDAR gene variants potentially linked to hypohidrotic ectodermal dysplasia in three Pakistani families, which could aid in genetic counseling for similar cases.
5 citations
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April 2014 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” This study concluded that antimullerian hormone levels are not generally effective for distinguishing late onset congenital adrenal hyperplasia from all hyperandrogenic polycystic ovary syndrome subtypes, except one specific subtype.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
12 citations
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January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” This case report describes a 67-year-old woman with frontal fibrosing alopecia and her daughter with lichen planopilaris, noting identical HLA D types which suggest a phenotypical link between these conditions.
3 citations
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September 2024 in “Experimental Dermatology” This study found elevated levels of IL-18 and free IL-18 in hidradenitis suppurativa patients compared to healthy controls, suggesting these cytokines may serve as novel biomarkers for disease activity, with correlations indicating their involvement in disease severity.
April 2023 in “Journal of Investigative Dermatology” This study found that in biopsied skin samples of alopecia areata, a lower anagen/telogen ratio was associated with increased T cell infiltration, and enhancing the PD-1/PD-L1 axis may inhibit CD8+T cell infiltration and improve the condition.
April 2025 in “Journal of Cosmetic Dermatology” This study suggests potential causal associations between certain lipid levels, specifically HDL-C and triglycerides, and alopecia areata, highlighting the importance of lipid management as a therapeutic target.
2 citations
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September 2007 in “International Journal of Impotence Research” This case study reports that low-dose testosterone therapy improved libido and sexual functions in a 36-year-old fragile X carrier female with hypoactive sexual desire disorder when monitored regularly for lab parameters.
9 citations
,
November 2015 in “Gynecological Endocrinology” This study found that among different subtypes of PCOS based on Rotterdam criteria, group A showed higher androgen levels and hirsutism, while all subtypes had increased LH and LH/FSH compared to controls.
December 2022 in “The Journal of Cosmetic Medicine” This study reports on a 46-year-old female with a high hairline who underwent hairline-lowering surgery using bone-tunneling suture fixation, achieving an average of 2 cm reduction, equivalent to transplanting up to 3,000 hair grafts, with satisfactory results for both patient and surgeons.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
391 citations
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September 2015 in “Journal of Clinical Lipidology” This document extends previous recommendations by the National Lipid Association for managing dyslipidemia, focusing on lifestyle therapies, special patient groups, and strategies to enhance adherence and patient outcomes.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
August 2019 in “Journal of Dermatology” This article is a letter to the editor discussing a rare case of Leydig cell tumor with type I diabetes mellitus causing female pattern hair loss, but it contains no abstract or new clinical findings.
March 2024 in “Poster presentations” This case report describes a 43-year-old woman diagnosed with both Kikuchi-Fujimoto disease and systemic lupus erythematosus, who showed clinical improvement after treatment with glucocorticoids and hydroxychloroquine, highlighting the rare coexistence of these conditions and the ongoing uncertainty about the precise cause of Kikuchi-Fujimoto disease.
16 citations
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March 2022 in “Clinica Chimica Acta” This study suggests that women with idiopathic hirsutism have increased 5α-reductase activity, indicated by elevated levels of 3α-diol glucuronide; further research is needed to assess its clinical biomarker potential.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
54 citations
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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.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.