February 2026 in “Journal of Chittagong Medical College Teachers Association” This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
June 2023 in “Scholars journal of medical case reports” This case report describes a 45-year-old Malian woman with Vogt-Koyanagi-Harada disease, highlighting its uncommon occurrence among individuals of African descent and detailing her treatment with prednisone and other adjunct therapies.
August 2024 in “Case Reports in Ophthalmology” In this case report, researchers observed that local radiation therapy to the orbits may not be sufficient to halt progression of new retinal lesions in older patients, even when the disease initially appears confined to the intraocular space.
4 citations
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January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reviews the characteristics, differential diagnosis, and management options for papular acantholytic dyskeratosis of the vulva, illustrated by a case of a 21-year-old patient, but reports no new clinical results.
January 2025 in “Pediatrics in Review” In this case report, a 14-year-old boy with musculoskeletal symptoms and distinctive skin lesions was diagnosed with scurvy due to a vitamin C deficiency confirmed by low serum levels and a unique skin biopsy, emphasizing the need for dietary assessment in similar presentations.
January 2025 in “Clinical Case Reports” This case study details the successful treatment of macrophage activation syndrome with dexamethasone and cyclosporine in a 36-year-old woman with adult-onset Still's disease, highlighting the critical importance of timely aggressive treatment.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
3 citations
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October 2010 in “Dermatologic Surgery” The new surgical technique for vitiligo is effective, safe, and cost-efficient.
1 citations
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September 2022 in “European Journal of Dermatology” This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.
1 citations
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April 2023 in “Heliyon” In this study, a 68-year-old man with muscle-invasive bladder cancer and renal insufficiency achieved a partial radiological response to neoadjuvant therapy with gemcitabine and Disitamab Vedotin, without significant adverse events, highlighting a potential alternative for cisplatin-ineligible patients.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
80 citations
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March 2000 in “Journal of cutaneous pathology” This study found that the Verhoeff-Van Gieson stain effectively distinguishes scarred from non-scarred dermis and aids in classifying types of permanent alopecia based on elastic tissue patterns.
7 citations
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February 2024 in “The Journal of Physiology” This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.
April 2024 in “Skin research and technology” This study suggests that valine and certain VLDL subfractions are positively associated with androgenetic alopecia risk, while reverse analysis showed AGA does not affect these metabolites.
August 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin diseases like atopic dermatitis, acne, and psoriasis are associated with increased odds of alcohol use disorder, with psychiatric conditions such as anxiety and depression partially mediating this relationship, accounting for up to 80% of the risk.
7 citations
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October 2023 in “European Journal of Pharmacology” This study found that Cannabidivarin (CBDV) promotes neuronal differentiation and inhibits oligodendrocyte maturation via TRPV1 modulation, highlighting its potential in neural stem cell research.
56 citations
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February 2012 in “Developmental biology” This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.
February 2024 in “European heart journal. Case reports” This case report highlights the need for a multidisciplinary approach in managing complex cardio-obstetric patients, as demonstrated by a pregnant woman with a large pericardial effusion successfully treated with a surgical pericardial window.
5 citations
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January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
9 citations
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May 2013 in “European Journal of Dermatology” This article discusses eruptive vellus hair cysts, describing their clinical characteristics, and reports no new research findings.
2 citations
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April 2014 in “International Wound Journal” The authors reported that V-Y-S plasty was a safe one-stage method for reconstructing very large scalp alopecia following burns or surgeries.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
August 2024 in “Receptors” This review highlights the crucial role of vitamin D signaling in epidermal stem cells during skin wound healing, emphasizing its distinct functions from calcium metabolism and its importance in genomic regulation mediated by the vitamin D receptor.
39 citations
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April 2022 in “Biomedical Materials” In this study, a biofunctional hydrogel incorporating mesenchymal stem cell-derived small extracellular vesicles promoted wound healing and reduced scar tissue formation by modulating the immune response in a mouse skin injury model.
December 2024 in “JEADV Clinical Practice” This study concluded that the anti-SARS-CoV-2 vaccine does not significantly increase the risk of flares in patients with hidradenitis suppurativa.
April 2023 in “International journal of dermatology and venereology” This study observed distinct dermoscopic features in pityriasis versicolor that could aid in its differentiation from similar skin disorders.
January 2026 in “Dermatology and Therapy” This study suggests that using UVFD to examine non-pigmented facial lesions can potentially enhance diagnostic accuracy and reduce unnecessary biopsies.