Scurvy, characterized by vitamin C deficiency, typically manifests with various symptoms, most commonly skin lesions. However, the presentation of a solitary skin lesion is considered atypical. An elderly patient with a history of heavy alcohol consumption presented with a small skin lesion that developed rapidly into a solitary open wound without any preceding trauma. Laboratory analysis revealed severe vitamin C deficiency (<5 μmol/L). The patient showed significant improvement following high-dose vitamin C replacement therapy. This case underscores the potential for scurvy to present with a solitary lower body wound devoid of typical symptoms. It highlights the importance of prompt consideration of vitamin C replacement therapy, particularly in high-risk groups such as alcoholics, by healthcare providers.
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http://dx.doi.org/10.7759/cureus.57652 | DOI Listing |
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDFDiagn Pathol
December 2024
Department of Pathology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, 210042, China.
Background: Isolated immunohistochemical indicators are limited to diagnose melanocytic neoplasms. This retrospective study is to assess the diagnostic value of combined immunohistochemical analysis targeting preferentially expressed antigen in melanoma (PRAME) and p16 in melanocytic neoplasms, with a detailed focus on arcal lesions.
Methods: This was a single center cohort study from January 2022 to June 2023.
Sci Rep
December 2024
Univ. Grenoble Alpes, CEA, Inserm, IRIG, UA13 BGE, Biomics, Grenoble, 38000, France.
Xeroderma pigmentosum group C (XPC) is a versatile protein crucial for sensing DNA damage in the global genome nucleotide excision repair (GG-NER) pathway. This pathway is vital for mammalian cells, acting as their essential approach for repairing DNA lesions stemming from interactions with environmental factors, such as exposure to ultraviolet (UV) radiation from the sun. Loss-of-function mutations in the XPC gene confer a photosensitive phenotype in XP-C patients, resulting in the accumulation of unrepaired UV-induced DNA damage.
View Article and Find Full Text PDFInt J Biol Macromol
December 2024
Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan 430022, China; Hubei Engineering Research Center for Skin Repair and Theranostics, Wuhan 430022, China. Electronic address:
Intralesional injection of 5-fluorouracil for the clinical treatment of hypertrophic scars (HS) remains challenging due to its short half-life, as well as the absence of evidence-based dosage and frequency injection guidelines. Herein, we developed a matrix metalloproteinases (MMPs)/reactive oxygen species (ROS)-responsive injectable prodrug hydrogel (GFP) that exhibits sustained drug release and fluorescence imaging capability, aiming to facilitate the optimization of injection dosage and frequency in HS treatment. The GFP hydrogel comprises gelatin methacryloyl and pendant methacryloyl-decorated tetrapeptide (PPPK) with 5-fluorouracil acetic acid/rhodamine B at the N-terminus.
View Article and Find Full Text PDFEur J Pharm Sci
December 2024
College of Pharmacy and Medical Technology, Putian University, Putian 351100, Fujian, China; Key Laboratory of Pharmaceutical Analysis and Laboratory Medicine (Putian University), Putian 351100, Fujian, China.
Blue light will be a promising alternative for photodynamic therapy in psoriasis, but the photosensitizer in vivo remains unexplored. Mesoporous zinc phosphate microparticle (MZP) was synthesized successfully in this study, as evidenced by XPS, XRD, and nitrogen adsorption experiments. Its psoriatic skin-sensitive property was corroborated by SEM and the higher cumulative release rate of that impregnated with curcumin (Cur) and glycyrrhizic acid (GA), namely Cur-GA-MZP, at pH 5.
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