215 citations
,
September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
29 citations
,
May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
January 2025 in “Dermatology Research and Practice” In this research, RNA expression analysis of scalp biopsies from lichen planopilaris patients revealed changes in specific genes after treatments with hydroxychloroquine, narrow band UVB, or low level laser light therapy, suggesting potential biomarkers and implicating M2 macrophages in the disease's immunopathogenesis.
March 2018 in “Benha Journal of Applied Sciences” This study found that while prolactin and DHEA-S levels were higher in women with hirsutism compared to controls, there was no significant correlation between second to fourth digit ratio and hormonal profiles.
February 2026 in “South Asian Research Journal of Biology and Applied Biosciences” In this study, patients with alopecia areata had significantly higher levels of luteinizing hormone and follicle-stimulating hormone compared to healthy controls, suggesting a link between hormone levels and the disease.
February 2025 in “Vestnik dermatologii i venerologii” This case report describes a 47-year-old patient with scarred alopecia diagnosed as discoid lupus erythematosus, where treatment with multiple medications led to clinical improvement.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
7 citations
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May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
5 citations
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July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
2 citations
,
January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
September 2021 in “Research Square (Research Square)” This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
June 2024 in “British Journal of Dermatology” This study reported that while both DLQI and HADS showed moderate correlations, only DLQI correlated with clinician-assessed disease severity in patients with alopecia.
71 citations
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June 2006 in “Human Reproduction” This study found that in young Taiwanese women with PCOS, low sex hormone-binding globulin levels were associated with low HDL cholesterol levels, independent of insulin resistance and obesity.
November 2022 in “Journal of the Endocrine Society” In this case study, a woman with high 25(OH)D levels and persistent symptoms showed decreased parathormone after transdermal estrogen therapy, highlighting the importance of assessing both parathormone and estrogen levels in similar patients.
This report presents a rare case of lichen spinulosus in a 52-year-old woman, featuring hyperkeratotic follicular papules and a dense lymphohistiocytic infiltrate in affected skin areas.
March 2026 in “Dermatology and Therapy” This study found that patients with discoid lupus erythematosus have a high prevalence of systemic, cardiometabolic, endocrine, and psychiatric comorbidities, with significant associations to conditions such as cardiovascular disease and depression.
1 citations
,
September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.
September 2025 in “Indian Journal of Dermatology” In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.
November 2020 in “Journal of the American Academy of Dermatology” Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
April 2023 in “Journal of Investigative Dermatology” This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.