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)

Connective tissue disorders affecting skin can be inherited or acquired and might result from an alteration of structure, function or metabolism of the constitutive elements of the supporting matrix. Collagen, the protein building the fibrous framework of the dermis, is considered as an example in understanding such a pathology at the molecular level. The molecular structure, the polymerizing capacity and the degradation of this large protein depends upon the activity of several specific post-transcriptional enzymes operating inside or outside of the cells. Pathology is known to be associated with an altered activity of most of these enzymes. Several pathological skin conditions are defined at the level of their molecular defect as in several types of the Ehlers-Danlos syndrome, osteogenesis imperfecta. Menkes' kinky hair disease, epidermolysis bullosa and scurvy. A similar molecular pathogenesis can be logically hypothesized for various other processes involving connective tissue as in scleroderma, pretibial myxoedema, cheloids, Werner syndrome, aging and corticosteroid induced atrophy.
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PMID:[Connective tissue diseases with cutaneous manifestation (author's transl)]. 75 6

In most western countries, scurvy has become a rare clinical entity. However, it may still be encountered in selected situations. It can mimic connective tissue disease, because of multiorgan involvement. Panniculitis has not previously been described in association with scurvy.
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PMID:Scurvy and panniculitis: a case report. 865 26

Periodic transfusions and effective chelation have ensured that thalassemics survive in to adulthood but their life is punctuated by peculiar problems in adulthood. Three cases of scurvy are being reported presenting uniquely as purpura, right hip joint effusion and right knee joint effusion with haemorrhage in prepatellar and retropatellar bursae, respectively over an 18 month period (2009-2010). The first two cases did give a history of gum bleed. None had any coagulation disturbance or transfusion-transmitted infections or connective tissue disorder. All the three cases responded dramatically to vitamin C supplementation. It is imperative to keep in mind that recurrent blood transfusions are associated with a state of subclinical vitamin C deficiency and overt scurvy may manifest as cumulative number of transfusions increase, as in adult thalassemics.
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PMID:Joint effusions and purpura in multiply-transfused adult beta-thalassemia- clinical pointers to diagnosis of scurvy. 2489 38