1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
November 2018 in “Journal of Investigative Dermatology” Lichen Planopilaris causes irreversible hair loss due to immune attacks on hair stem cells, but modulating PPAR-γ might help treat it.
50 citations
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October 1986 in “European journal of pediatrics” This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.
37 citations
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June 2000 in “Experimental dermatology” This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.
79 citations
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March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
10 citations
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January 1994 in “Annals of Internal Medicine” This case report presents a young woman with systemic lupus erythematosus who was found to have CD4+ lymphocytopenia.
1 citations
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June 2023 in “The FASEB journal” This study found that in mice, LSD1 interacting with HSP90 accelerates skin wound healing by enhancing HFSC glycolytic metabolism, proliferation, and differentiation via the c-MYC/LDHA axis.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” This article presents a case of congenital adrenal hyperplasia and myelolipoma in a 56-year-old woman, describing her symptoms and characteristics without offering new clinical results.
August 2021 in “Journal of Pakistan Association of Dermatologists” This study found that cutaneous manifestations in patients undergoing hemodialysis are common and often worsen with longer treatment duration.
June 2020 in “Jurnal Penyakit Dalam Indonesia” This case study highlights that primary biliary cholangitis in a patient with systemic lupus erythematosus can respond well to ursodeoxycholic acid therapy, and anti-DFS70 findings may require further evaluation for other nonsystemic autoimmune conditions.
2 citations
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July 2023 in “International Journal of Dermatology” This meta-analysis found an increased prevalence of hypothyroidism in patients with lichen planopilaris compared to controls, though the exact relationship between the two conditions remains unclear.
January 2023 in “Journal of The American Academy of Dermatology” This study examined medical comorbidities and medications among women with vulvar lichen sclerosus, contributing insights for comprehensive treatment strategies, but does not report new clinical results.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
12 citations
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March 2018 in “Medicine” This case report describes a 60-year-old woman with an ovarian Leydig cell tumor leading to elevated testosterone levels and hirsutism, highlighting the need to consider androgen-secreting tumors in similar postmenopausal cases.
September 2023 in “Journal of the American Academy of Dermatology” 7 citations
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October 2011 in “BMC Cancer” This study found no evidence that HDGF expression transforms melanocytes into tumors in a mouse model, although it may play a role in cell differentiation and tumor progression.
12 citations
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February 2019 in “Developmental Biology” This study found that nerve-mediated HDAC1 expression is necessary for blastema formation and limb regeneration in axolotls, and that inhibiting HDACs delays or inhibits this process.
18 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” This review found that the DLQI is widely used as a benchmark in the development and validation of dermatology quality-of-life measures.
May 2025 in “The Journal of Rheumatology” This report describes two cases where female patients with chronic granulomatous disease developed manifestations of systemic lupus erythematosus, highlighting a rare association that may influence clinical evaluation and treatment planning.
73 citations
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April 2010 in “Anais Brasileiros de Dermatologia” This study concluded that dermoscopy enhances the diagnostic capability for cicatricial alopecia beyond clinical inspection and identified novel dermoscopic features such as blue-grey dots.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
This study reported that dupilumab successfully induced remission of chronic, disseminated eczema herpeticum in a six-year-old girl with DOCK8-deficiency hyper-IgE syndrome, achieving complete resolution of herpetic lesions and significant skin, hair, and nail improvement within three months.
March 2025 in “Journal of Pakistan Association of Dermatologists” This study observed that 62.7% of men with androgenetic alopecia had abnormal blood lipid levels, suggesting the importance of assessing lipid profiles in these individuals for early detection of cardiovascular and metabolic risks.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
January 2026 in “Biomaterials”
In this study, human umbilical cord mesenchymal stem cell-derived exosomes were found to promote the growth of human hair dermal papilla cells, partly by enhancing AKT-dependent signaling pathways, suggesting a potential role in treating hair loss.