December 2025 in “Clinical Cosmetic and Investigational Dermatology” This case study describes a rare instance of subacute cutaneous lupus erythematosus on the chin, highlighting the effectiveness of using dermoscopy and reflectance confocal microscopy for accurate diagnosis and monitoring, which led to significant lesion improvement with corticosteroid and immunomodulatory treatment over 19 weeks.
1 citations
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April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
13 citations
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December 2010 in “Annales de Dermatologie et de Vénéréologie” This retrospective study in Morocco confirms that Stevens-Johnson and Lyell syndromes lead to severe ocular and unsightly mucocutaneous sequelae, significantly affecting patients' social and professional integration.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
September 2024 in “Journal of the American Academy of Dermatology” In this case report, a 53-year-old woman with Little-Graham-Piccardi-Lassueur-Syndrome responded well to a treatment regimen of hydroxychloroquine, methotrexate, and other therapies, effectively halting the progression of this rare dermatosis characterized by alopecia and hyperkeratotic eruptions.
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.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
113 citations
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June 2010 in “Biological Chemistry” This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
38 citations
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May 1982 in “PubMed” This report describes almost complete resolution of calcinosis and healing of associated ulcers in an 83-year-old woman with localized scleroderma after repeated intralesional steroid injections.
19 citations
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November 2021 in “Lupus Science & Medicine” This study found that Black patients with discoid lupus erythematosus had significantly worse CLASI damage scores and higher odds for dyspigmentation, scalp involvement, and scarring alopecia compared to non-Black patients.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.
5 citations
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November 2014 in “Hair transplant forum international” This article introduces a series on low level laser light therapy, focusing on its science, regulatory aspects, and controlled trial methodologies, but reports no new clinical results.
14 citations
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November 2016 in “Lupus” In this retrospective study of adolescents with recalcitrant cutaneous lupus, lenalidomide treatment resulted in complete or near resolution of skin symptoms within 6 months, while allowing for a reduction in prednisone dosage.
November 2025 in “Informatica” This study introduces a novel image enhancement method that significantly improves the visual quality of low-light sports images by utilizing improved bilateral filtering and the CLAHE algorithm, achieving a 65.24% improvement in color and edge detail preservation compared to state-of-the-art methods on the LOL dataset.
5 citations
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November 2020 in “EBioMedicine” This study reports a novel diagnostic method for latent circadian rhythm sleep-wake disorder using circadian gene oscillations from hair follicle cells to improve sleep disorder differentiation and potential therapeutic intervention.
January 2015 in “Prace Naukowe Uniwersytetu Ekonomicznego we Wrocławiu” Using Lasswell's model can make CSR communication more effective and trusted.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.
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.
20 citations
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May 2016 in “Journal of Cutaneous Pathology” This study suggests that the presence and arrangement of plasmacytoid dendritic cells can help distinguish chronic cutaneous lupus erythematosus from other types of scarring alopecia.
20 citations
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October 2016 in “Veterinary dermatology” This study reports that generalized discoid lupus erythematosus is a recognized canine variant of cutaneous lupus erythematosus, resembling its human counterpart, with varied treatment responses and common relapses.
October 2017 in “The American Journal of Gastroenterology” This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.
December 2025 in “Cureus” In this case report, a 40-year-old woman with systemic lupus erythematosus developed calcinosis cutis, a rare complication characterized by calcified deposits in her legs, requiring surgical intervention and ongoing medical treatment due to infection.
October 2025 in “Scholars Journal of Medical Case Reports” This review discusses the spectrum of lupus erythematosus conditions, specifically focusing on the different forms of Cutaneous Lupus Erythematosus, and reports no clinical results.
33 citations
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March 2018 in “Italian Journal of Dermatology and Venereology” This article reviews clinical and histopathological aspects of cutaneous lupus erythematosus and its treatment, emphasizing the importance of photoprotection and outlining current therapies, but reports no new experimental results.
1 citations
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January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
April 2023 in “Journal of Investigative Dermatology” This case study reports an unusual presentation of primary cutaneous diffuse large B-cell lymphoma–leg type occurring on the upper lip of an 81-year-old woman, highlighting the need for timely recognition of atypical manifestations.
2 citations
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June 2012 in “Dermatologica Sinica” Dermoscopy is useful for diagnosing and monitoring discoid lupus erythematosus by showing specific skin patterns.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.