1 citations
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July 2024 in “Journal of Investigative Dermatology” Plaquenil can cause a severe skin reaction called AGEP, requiring prompt diagnosis and treatment.
November 2024 in “Medicina” This case report details a unique instance of pityriasis rubra pilaris affecting only the scalp, highlighting novel trichoscopic features and emphasizing the importance of recognizing this rare presentation for improved diagnosis and treatment.
13 citations
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April 2022 in “Journal of Mind and Medical Sciences” This review discusses recent findings on the pathology, diagnosis, and treatment of inflammatory bowel disease and reports no new clinical results.
23 citations
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December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” This study highlights rapid advances in alopecia areata treatment following the identification of genetic variants associated with increased disease risk, suggesting potential for precision medicine approaches.
12 citations
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August 2022 in “Biochemical Journal” This review discusses the mechanisms of skin-associated cell death and their potential role in treating inflammatory skin diseases, but presents no new clinical findings.
June 2025 in “Dermatopathology” This study reports that SARS-CoV-2 infection, COVID-19 vaccination, and off-label dupilumab treatment may exacerbate psoriasis, with overlapping inflammatory pathways involving cytokines like IL-17 and TNF-α. Histopathological similarities between psoriasis flares and COVID-19 skin manifestations were noted, suggesting a potential connection requiring further research.
January 2025 in “International Journal of Molecular Sciences” This narrative review explored the complex interconnections between psoriasis and other dermatological conditions like vitiligo, alopecia areata, and atopic dermatitis, highlighting shared immune dysfunctions that complicate diagnosis and treatment, with implications for research and holistic patient care.
August 2024 in “Postgraduate Medical Journal” A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
78 citations
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January 2013 in “Dermatology Online Journal” This review discusses various diseases associated with hidradenitis suppurativa, including obesity, arthritis, and pyoderma gangrenosum, but reports no new clinical results and calls for further research.
3 citations
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January 2021 in “FEBS open bio” This study found that a solution containing 0.5% Camellia japonica placenta extract increased scalp moisture and reduced sebum content, dead keratin, and erythema in adult females, suggesting potential as a scalp treatment.
2 citations
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November 2024 in “Journal of Clinical Medicine” This review suggests that vitamin D3 deficiency and the colonization of oral mucosa by *Candida* fungi may contribute to the pathogenesis of psoriasis, highlighting the potential interaction between vitamin D, microbiome imbalance, and fungal infections in the disease's progression.
1 citations
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November 2011 in “British journal of pharmacology” This abstract provides a comprehensive overview of enzyme classification, function, and interaction with drugs, but does not present new research findings.
December 2023 in “Regenerative therapy” In this review, the authors reported that exosomal miRNA-based therapies showed promising therapeutic effects on nine skin diseases in animal models, with enhanced outcomes observed when using miRNA-overexpressing exosomes compared to natural ones; however, no comparisons to standard treatments were available.
This study discusses the genetic and environmental factors contributing to psoriasis, highlighting its complex immune-mediated nature and the influence of triggers like stress, infections, and medications.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
5 citations
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June 2008 in “British Journal of Dermatology” 8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
175 citations
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September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.