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http://dx.doi.org/10.1055/s-2007-999957 | DOI Listing |
Clin Cosmet Investig Dermatol
January 2025
Department of Dermatology, Guangzhou Dermatology Hospital, Guangzhou, Guangdong, People's Republic of China.
Scleromyxedema (SM) is a rare primary cutaneous mucinosis characterized by systemic papules and scleroderma-like manifestations, often associated with monoclonal gammopathy. We present the case of a 37-year-old male with SM who developed yellowish plaques on the neck and back over three years. Histopathological examination revealed mucin deposition, fibroblast proliferation, and fibrosis, supporting the diagnosis.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Department of Pediatric Nephrology, Istanbul University- Cerrahpasa, Cerrahpasa Faculty of Medicine, 34098, Istanbul, Turkey.
Autosomal recessive proximal renal tubular acidosis (AR-pRTA) with ocular abnormalities is a rare syndrome caused by variants in the SLC4A4 gene, which encodes Na/HCO3 cotransporter (NBCe1). The syndrome primarily affects the kidneys, but also causes extra-renal manifestations. Pancreatic type NBCe1 is located at the basolateral membrane of the pancreatic ductal cells and together with CFTR chloride channel, it is involved in bicarbonate secretion.
View Article and Find Full Text PDFJ Clin Ultrasound
January 2025
Department of Gastroenterology, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the classic phenotype of arrhythmogenic cardiomyopathy. ARVC in twins have been reported rarely. Herein, we report an unusual case of young monozygotic twins with early disease onset presenting different course of disease progression and clinical manifestations.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
January 2025
Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Lymphomatoid papulosis (LyP) is currently categorized as a primary lymphoproliferative disorder that follows a chronic, recurrent clinical course. The diagnosis of LyP is mainly based on clinical presentation and histopathological correlation. Six subtypes of LyP have been described and recognized, each with different histological features and sometimes distinct clinical presentations.
View Article and Find Full Text PDFAME Case Rep
December 2024
Neurology and Stroke Unit, Pescara General Hospital, Pescara, Italy.
Background: Neuromyelitis optica spectrum disorders (NMOSDs) are degenerative diseases frequently associated with severe recurrences and high risk of progressive disability. In this report, we describe an unusual case of a patient with the coexistence between NMOSD and mixed connective tissue disease (MCTD).
Case Description: A 58-year-old Caucasian man was admitted to the Emergency Department (ED) with low back pain and walking inability.
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