7 citations
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February 2015 in “Journal of comparative pathology” This study observed that NSG-hu-BLT mice developed graft-versus-host disease characterized by CD8+ T lymphocyte-related cell death in the skin and liver, which may affect their utility in other research areas.
40 citations
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March 1982 in “British Journal of Dermatology” This study found that women experiencing diffuse hair loss had significantly lower levels of plasma sex-hormone binding globulin compared to controls, while their testosterone levels remained normal.
16 citations
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August 2000 in “British Journal of Dermatology” In this case report, lichen myxedematosus associated with hepatocellular carcinoma showed progressive improvement in skin lesions without further treatment following tumor resection.
December 2012 in “Expert review of dermatology” This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.
March 2004 in “Journal of The American Academy of Dermatology” This report describes a unique case of dyschromatosis universalis in a 10-year-old Haitian male, notable for the presence of a silvery sheen to his scalp hairs and eyelashes, which may represent a variation of the condition.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
July 2026 in “Endocrine and Metabolic Science” This study found that dyslipidemia was associated with a higher risk of androgenic alopecia in females, driven by low HDL and multiple lipid abnormalities, but not in males.
May 2025 in “Dermatology Reports” In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
17 citations
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January 2014 in “Journal of Clinical and Diagnostic Research” This study found that patients with oral lichen planus and oral lichenoid reactions have higher levels of serum cholesterol and LDL-C than healthy individuals, suggesting a potential elevated risk for cardiovascular disease.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
6 citations
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March 2016 in “British Journal of Dermatology” This study reports that low levels of HDL cholesterol and IGF-1 were associated with a higher risk of hair loss in middle-aged women, but causal relationships remain uncertain.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
This study determined that the incidence of Discoid Lupus Erythematosus at the Government General Hospital, Chennai, from 2006 to 2008 was 1.7 per 1000, with localized and disseminated forms manifesting distinctive demographic and clinical patterns.
April 2016 in “Journal of Investigative Dermatology” This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
9 citations
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December 2020 in “British Journal of Dermatology” This research letter reports that low-dose oral minoxidil improved hair density and length in children with loose anagen hair syndrome.
4 citations
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November 2016 in “Journal of Cutaneous Pathology” This letter discusses three plasmacytoid dendritic cell-related parameters that may help differentiate lupus alopecia from lichen planopilaris, but it reports no new study results.
June 2026 in “British Journal of Dermatology” This case study documented the first known instance of biopsy-confirmed lichen planopilaris occurring after hairline-lowering surgery in a patient without prior history, highlighting a potential complication where surgical trauma may trigger immune-mediated hair loss.
February 2016 in “Acta Medica Marisiensis” This case study presents what is reportedly the first association of Graham Little-Lassueur Syndrome with chronic hepatitis C, observed in a 47-year-old female patient.
April 2020 in “BMC endocrine disorders” This case report describes a 65-year-old woman with childhood-onset growth hormone deficiency who developed panhypopituitarism, including late-onset secondary hypoadrenocorticism, affecting her respiratory and renal function.
October 2002 in “Atherosclerosis Supplements” LDL apheresis lowers inflammation and cardiovascular risk by reducing CRP levels long-term.
April 2022 in “Dermatologic Therapy” In this study, diode laser treatment showed greater efficacy in reducing facial hair and increasing satisfaction among hirsutism patients with normal levels of DHEAS and DHT, compared to those with deranged levels, although some benefits were observed across both groups.
2 citations
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June 2012 in “Journal of Dermatological Science” This study found that histidine decarboxylase is crucial for the hair-inducing ability of newborn mouse dermal cells, with its expression significantly decreasing in the first few days after birth.
This study found that patients with lichen planopilaris exhibit a higher pro-atherogenic lipid profile and elevated atherogenic indexes, suggesting a need for increased cardiovascular and lipid monitoring in these individuals.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
81 citations
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March 1985 in “Journal of Clinical Investigation” This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.