Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036474 (scurvy)
685 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 45-year-old man presented with follicular exanthema in his lower limbs, alternating bowel habits and significant weight loss. His medical history included seronegative arthritis, bipolar disease and an inconclusive diagnostic laparoscopy. Diagnostic work up revealed microcytic anaemia and multivitamin deficiency. Skin biopsy of the exanthema suggested scurvy. Owing to these signs of malabsorption, upper endoscopy with duodenal biopsies was performed, exhibiting villous atrophy and extensive periodic acid-Schiff-positive material in the lamina propria, therefore diagnosing Whipple's disease (WD). After starting treatment with ceftriaxone and co-trimoxazole, an impressive recovery was noted, as the wide spectrum of malabsorption signs quickly disappeared. After a year of antibiotics, articular and cutaneous manifestations improved, allowing the patient to stop taking corticosteroids and antidepressants. This truly unusual presentation reflects the multisystemic nature of WD, often leading to misdiagnosis of other entities. Scurvy is a rare finding in developed countries, but its presence should raise suspicion for small bowel disease.
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PMID:From past sailors' eras to the present day: scurvy as a surprising manifestation of an uncommon gastrointestinal disease. 2637 99

We report three cases of scurvy in previously healthy children referred to us for leg pain and refusal to walk. All children had no significant medical history, symptoms had started months before and subtly advanced. Two of them presented with gingival hyperplasia and petechiae, another one reported night sweats and gingival bleeding in the past few weeks. Two had vitamin D deficiency, and all had microcytic anaemia (in one case requiring transfusional support). A nutritional screening revealed low or undetectable levels of ascorbic acid. This, along with the clinical and radiological findings, led to a diagnosis of scurvy. Vitamin C supplementation was started with rapid improvement of the children's clinical condition. Scurvy is a rare disease in the 'first world', but there are anecdotal reports of scurvy in children without any of the known risk factors for this condition. In our cases, a selective diet was the only risk factor.
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PMID:Scurvy: still a threat in the well-fed first world? 3008 52