Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of scurvy diagnosed following presentation with a purpuric rash are presented. A 44-year-old man developed scurvy as a result of poor dietary intake of vitamin C. This occurred because of a number of factors. including poor dentition, diarrhoea, depression and benzodiazepine/narcotic dependence. A 69-year-old man with acute myeloid leukaemic transformation of myelodysplastic syndrome developed mucositis, nausea, vomiting and diarrhoea as complications of chemotherapy. This led to poor dietary intake and consequently scurvy. Both cases demonstrated specific and diagnostic cutaneous manifestations of scurvy, particularly perifollicular purpura, ecchymoses and coiled corkscrew hairs. The diagnosis was supported by specific diet history. Ascorbic acid tolerance test was used as a simple laboratory method to confirm the clinical diagnosis.
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PMID:Scurvy: a cutaneous clinical diagnosis. 1258 Oct 82

Metaphyseal and diaphyseal fractures have been reported in children with severe spastic cerebral palsy, but there is no reference to epiphyseal separations in these patients. We report nine epiphyseal separations involving the distal femur and proximal humerus in four severely affected children with spastic quadriplegic cerebral palsy. The clinico-radiological features confirmed the cause to be scurvy. These epiphyseal separations have a good prognosis unlike the physeal injuries reported in children with myelodysplasia. Treatment with vitamin C and splintage resulted in rapid healing with excellent remodeling. Scurvy should be considered a potential cause for an epiphyseal slip in a child with severe spastic cerebral palsy. Routine dietary supplementation of vitamin C is recommended for these malnourished and nonambulant children.
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PMID:Epiphyseal separations in spastic cerebral palsy. 1741 75

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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PMID:Behind the Skin: A Rare Case of Scurvy-Associated Megaloblastic Anemia. 3120 33