Scurvy, caused by vitamin C deficiency, is very rare nowadays in the developed world. Scattered cases are found in people with unusual eating habits, alcoholism, intestinal malabsorption, mental disorders, or elderly living alone. Because of its rarity, clinical presentations of scurvy, especially anemia and bleeding, are no longer well appreciated, and consequently extensive evaluation is commonly launched to pursue scurvy mimics, such as deep vein thrombosis, vasculitis, systemic coagulation disorders, and myelodysplasia. Herein, we describe the clinical manifestations and lab findings in a scurvy patient to raise awareness of this uncommon disease.
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http://dx.doi.org/10.1177/1179547619849036 | DOI Listing |
Pediatr Nephrol
January 2025
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome.
View Article and Find Full Text PDFClin Cosmet Investig Dermatol
January 2025
Department of Dermatology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, People's Republic of China.
Dystrophic epidermolysis bullosa (DEB) is a heterogeneous and rare genetic skin disease caused by mutations in the gene, which encodes Type VII collagen. The absence or dysfunction of Type VII collagen can cause the dense lower layer of the basal membrane zone of the skin to separate from the dermis, leading to blister formation and various complications. In different DEB subtypes, the severity of the phenotype is associated, to some extent, with the outcome of Type VII collagen caused by mutations in the gene, which may be reduced in expression, remarkably reduced, or completely absent.
View Article and Find Full Text PDFRespir Med Case Rep
January 2025
Department of Rheumatology of Lucania - UOSD of Rheumatology, "Madonna delle Grazie" Hospital, Matera, Italy.
Background: Anti-Ku antibodies are autoantibodies directed against the Ku protein complex involved in DNA repair. They are typically associated with overlap syndromes featuring polymyositis and systemic sclerosis. Isolated pulmonary involvement without myositis is exceedingly rare.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare venous malformation disorder. Currently, there is no standard therapy for this disease. However, lauromacrogol, a sclerosant extensively utilized in the management of vascular malformations, has been applied in the treatment of BRBNS.
View Article and Find Full Text PDFGynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
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