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View Article and Find Full Text PDFRheumatological manifestations of H syndrome.
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Article Synopsis
- H syndrome is a rare genetic condition characterized by skin changes (like hyperpigmentation and excessive hair growth) and affects multiple body systems due to a specific gene mutation.
- A case study of a 24-year-old Moroccan male with insulin-dependent diabetes shows various symptoms, including skin issues and musculoskeletal problems like foot abnormalities and joint contractures.
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Cases with the H syndrome presenting with skin and bone findings.
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Department of Pediatric Immunology and Rheumatology, Uludag University Faculty of Medicine, Bursa, Turkey.
Background: The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.
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Neurology Department, Faculty of Medicine, Damascus University, Damascus, Syria.
Background: The nucleoside transport capabilities of the human equilibrative nucleoside transporter-3 (hENT3) are disrupted by mutations in SLC29A3 (10q22.2), which are genes for the nucleoside transporter and are the cause of the unusual autosomal recessive disease known as H syndrome. As a result, histiocytic cells invade a number of organs.
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