A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
1 citations
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May 2025 in “The Journal of Rheumatology” This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.
2 citations
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July 2022 in “Cureus” This case report describes a rare patient with Sjogren's syndrome who experienced recurrent pneumothorax, resolved through surgical intervention, highlighting pneumothorax as an unusual complication of the condition.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
October 1990 in “Pediatric Research” This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
This case study indicates that older patients with NMOSD may show favorable clinical improvements with aggressive treatment, even when the intervention is initiated later in the disease course.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
2 citations
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January 2014 in “Medical Principles and Practice” This study found that patients with rosacea had significantly more radiological evidence of chronic rhinosinusitis, and erythematotelangiectatic severity was associated with CRS.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
9 citations
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January 2015 in “Indian Dermatology Online Journal” This case report highlights the successful treatment of Kaposi varicelliform eruption in a pemphigus vulgaris patient using intravenous acyclovir, alongside antibiotics, resulting in healing of skin lesions with scarring.
5 citations
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August 1925 in “Archives of dermatology” This article presents a case of an 8-year-old boy with Recklinghausen's disease showing features such as café-au-lait spots, alopecia, and developmental anomalies, but reports no new findings beyond observation.
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.
10 citations
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October 2015 in “Journal of the International Association of Providers of AIDS Care” This case report describes a severe form of HIV-associated pityriasis rubra pilaris in a dark-skinned woman that improved rapidly and sustainably with combination antiretroviral therapy, despite atypical presentation without significant erythroderma.
November 2024 in “Rheumatology Advances in Practice” This case report highlights a rare instance of visceral leishmaniasis presenting as seropositive rheumatoid arthritis in a patient with HIV, emphasizing the importance of considering chronic infections as a differential diagnosis in inflammatory arthritis, especially in diverse populations with a history of travel.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” This case report describes a 30-year-old woman diagnosed with both Rhupus and Rowell syndromes, and details her presentation and treatment plan, without reporting specific treatment outcomes.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
October 2000 in “Pediatrics in Review” This report describes a case in which poststreptococcal reactive arthritis in a girl was effectively treated with naproxen, and highlights the importance of considering nongroup A Streptococcus in similar presentations.
23 citations
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October 2015 in “Plastic and reconstructive surgery/PSEF CD journals” This article reviews the author's experience and favored techniques for using Radiesse in cosmetic treatments but reports no new clinical trial results.
14 citations
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August 2010 in “Journal of Investigative Dermatology” HPV does not cause aggressive cancer in RDEB patients.
March 2017 in “International journal of basic and clinical pharmacology” This study observed that morbilliform rash was the most common adverse cutaneous drug reaction, and antimicrobials, particularly nevirapine, were the primary causative agents among patients in Rajkot, Gujarat.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
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.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
3 citations
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June 2020 in “Open access rheumatology” This case report reviews the management of Rowell syndrome in a patient initially diagnosed with Rhupus syndrome and highlights their development of erythema multiforme after certain medications.
December 2025 in “Al-Iraqia Medical College Journal” This study explored the relationships between virus susceptibility to infection and several factors, finding that higher heat tolerance and larger virus size correlated positively with infection susceptibility, while high humidity and higher mutation rates correlated inversely among eight RNA viruses, including SARS-CoV-2 and influenza.
May 2015 in “Journal of The American Academy of Dermatology” A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
8 citations
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January 2019 in “Journal of cosmetic dermatology” This study found that six sessions of a modified phenol peel effectively reduced hyperpigmentation in patients with Lichen Planus Pigmentosus, with 76% of treated individuals experiencing at least a 25% improvement, and no serious side effects reported.
January 2014 in “Jaypee Brothers Medical Publishers (P) Ltd. eBooks” Mesotherapy might help with hair and scalp problems.
August 2025 in “Al-Iraqia Medical College Journal” This study found that among eight RNA viruses, susceptibility to infection is directly related to heat tolerance and virus size, while inversely related to high humidity and mutation rate. Additionally, larger viruses had higher mutation rates.
16 citations
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January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses the role of skin manifestations as early markers and prognostic indicators of HIV infection in children but reports no new clinical results.