November 2025 in “Clinical Cosmetic and Investigational Dermatology” This report presented a case of a patient with basal cell carcinoma and systemic lupus erythematosus who was treated successfully with sonidegib, showing positive outcomes without worsening lupus activity, despite lacking documented clinical use of sonidegib in such patients.
27 citations
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February 2009 in “Autoimmunity Reviews” This study describes the development of the EUSCLE Core Set Questionnaire for cutaneous lupus erythematosus, designed to standardize data collection, facilitate epidemiological analysis, and guide diagnostic and therapeutic strategies across European centers.
11 citations
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February 2012 in “Pediatrics in Review” This article reviews systemic lupus erythematosus (SLE) and highlights the FDA approval of belimumab, marking the first new SLE treatment in nearly 50 years, but reports no new clinical trial results.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
2 citations
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August 2004 in “Veterinary Dermatology” This case study in an 8-month-old mixed-breed dog with symptoms and histopathological findings supports a diagnosis of hereditary junctional epidermolysis bullosa, although specific genetic mutations weren't identified.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
16 citations
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March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
19 citations
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September 2010 in “Journal of the European Academy of Dermatology and Venereology” This study found that while the CLASI is generally useful for assessing disease activity and damage in cutaneous lupus erythematosus, it may not accurately reflect all subtypes, indicating a need for revision.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
44 citations
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January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
February 2019 in “American Journal of Dermatopathology” This study presents the first reported case of a collision tumor consisting of basal cell carcinoma and cutaneous leiomyosarcoma, emphasizing the need for pathologists to recognize such combinations.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
May 2014 in “Journal of The American Academy of Dermatology” The number of new cases of cutaneous B-cell lymphoma has leveled off since the early 2000s, and survival rates have improved since 1973.
21 citations
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November 2009 in “Dermatologic Clinics” This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.
20 citations
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June 2021 in “British Journal of Dermatology” This review provides detailed recommendations for managing cutaneous lupus erythematosus in primary and secondary care but reports no new clinical results.
1 citations
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July 2022 in “BMJ Case Reports” This case report describes a woman in her 30s diagnosed with systemic lupus erythematosus, characterized by alopecia, arthritis, photosensitivity, and skin rashes, confirmed through positive serology.
This study reported that belimumab helped over 40% of active systemic lupus erythematosus patients achieve low disease activity, with more than 20% able to stop glucocorticoids completely.
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.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
This case report details a 38-year-old woman in Sri Lanka diagnosed with systemic lupus erythematosus-associated protein-losing enteropathy, identified through hypoalbuminemia and EULAR criteria in a resource-limited setting.
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.
3 citations
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March 2022 in “Medicine” This case report described a patient with unilateral branch retinal artery occlusion due to previously undiagnosed systemic lupus erythematosus, where systemic immunotherapy led to significant visual improvement and resolution of macular edema.
1 citations
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October 2023 in “European Journal of Dermatology” This study found that combining hair transplantation with platelet-rich plasma led to significantly better outcomes, such as reduced hair loss area and increased hair regeneration, compared to hair transplantation alone in patients with androgenic alopecia.
6 citations
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November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
April 2023 in “Journal of Investigative Dermatology” In this study, a mouse model of scarring alopecia demonstrated significantly reduced CD200R expression in affected skin, which may contribute to immune attacks on hair follicles.