10 citations
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June 2019 in “Transplant infectious disease” This case study reported TSPyV DNA detection in blood and urine samples before trichodysplasia spinulosa skin lesions developed in a kidney transplant patient under immunosuppressive therapy.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in hidradenitis suppurativa, the proteins SERPINB3/B4 and S100A7/A8/A9 were significantly overexpressed in lesional skin compared to nonlesional skin, suggesting new pathways in the disease's pathogenesis.
July 2025 in “Pediatric Transplantation” In this case study, a rare viral infection called trichodysplasia spinulosa was diagnosed in a 10-year-old girl post-kidney transplant; she was treated successfully with reduced immunosuppression alongside leflunomide and valganciclovir, though the efficacy of valganciclovir remains uncertain.
17 citations
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October 2001 in “British Journal of Ophthalmology” This report highlights a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, suggesting it may be a viable alternative to surgical excision.
June 2018 in “Reactions Weekly” A 65-year-old man developed a serious skin cancer linked to a drug he was taking for a fungal infection after a bone marrow transplant.
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.
December 2013 in “Pump Industry Analyst” This study found that using particle-based antigen delivery in combination with cyanoacrylate skin surface stripping is an effective needle-free method for targeting HIV-1 p24 protein to skin cells, enhancing transcutaneous vaccination potential.
3 citations
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October 2001 in “British Journal of Ophthalmology” In this case, intralesional cidofovir showed a successful outcome for treating SCC without systemic toxicity, suggesting it may be worth considering alongside surgical excision.
14 citations
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August 2010 in “Journal of Investigative Dermatology” HPV does not cause aggressive cancer in RDEB patients.
28 citations
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May 2000 in “Proceedings of the National Academy of Sciences” This study demonstrated that the highly divergent WDSV rv-cyclin significantly stimulates eukaryotic cell proliferation, leading to hyperplastic skin lesions in transgenic mice.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, evidence that trichodysplasia spinulosa-associated polyomavirus targets follicular keratinocytes was observed in a pediatric case, suggesting these cells as the primary viral target.
January 2025 in “Clinical and Experimental Vaccine Research” This report documents a case where a healthy female developed alopecia universalis after receiving the 9-valent HPV vaccine, highlighting the potential for autoimmune reactions and the importance of prompt medical attention.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
May 2011 in “Journal of Clinical Neuroscience” This article discusses a case of Vogt-Koyanagi-Harada disease, detailing symptoms, diagnostic features, and treatment with corticosteroids, but it reports no new clinical findings.
September 2019 in “Journal of Investigative Dermatology” This study found that the clinical severity of hidradenitis suppurativa, evaluated through Hurley staging, VAS, PGA, and SAHS, significantly affects patients' work absenteeism and presenteeism, with presenteeism being more prevalent.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
1 citations
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September 2023 in “Frontiers in Genetics” This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
19 citations
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August 2018 in “JAMA dermatology” This study found that skin mesenchymal stem cells from hidradenitis suppurativa patients overexpress proinflammatory and anti-inflammatory cytokines, suggesting their potential contribution to the disease's pathogenesis.
1 citations
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April 2018 in “SLEEP” This study found that veterans with obstructive sleep apnea were nearly twice as likely to develop herpes zoster compared to those without the condition.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
7 citations
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June 1976 in “JAMA” This study found that female patients with ankylosing spondylitis have a high association with the HLA-B27 antigen, similar to previous findings in males.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
5 citations
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January 2019 in “International Journal of STD & AIDS” This report discusses a rare case where immune reconstitution inflammatory syndrome in an HIV patient led to dermatologic, ophthalmologic, and neurologic complications due to secondary syphilis.
June 2021 in “Research Square (Research Square)” This study reports that a single injection of stromal vascular fraction (SVF) cells into the scalp of patients with androgenetic alopecia significantly increased hair density and thickness within 3 to 6 months, with no observed side effects.
July 2025 in “Journal of Investigative Dermatology” This study found that high-dose UVA-1 therapy appeared to improve both patient-reported outcomes and objective clinical measures in patients with morphea and systemic sclerosis, supporting its potential efficacy for treating scleroderma.
June 2017 in “The Medical Journal of Australia” This article provides no abstract or new research findings.
3 citations
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January 2008 in “Journal of the American Academy of Dermatology” A patient's skin rash did not affect the area where a previous viral rash was healing, suggesting a rare immune response.
1 citations
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April 2008 in “Experimental Dermatology” This paper reviews hidradenitis suppurativa, comparing its clinical and histopathological characteristics to acne, questioning the proposed link to terminal hair follicles, and reports no new results.