Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042373 (vascular disease)
 17,070 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic skin ulcers are frequently encountered in clinical practice and are often due to very heterogeneous etiologies. Cryofibrinogenemia is an unusual cause of non-healing skin ulcers. It is a small-vessel occlusive vascular disorder that results from the precipitation of cryofibrinogens in plasma. The lack of definitive diagnostic criteria means cryofibrinogenemia remains an under-diagnosed entity that causes significant morbidity. One of the most common manifestations of cryofibrinogenemia is skin ulceration. The presence of non-healing ulcers in otherwise healthy patients with no evidence of large-vessel disease should raise the suspicion of essential cryofibrinogenemia. An important clinical feature is the presence of microlivedo, which represents short hyperpigmented linear streaks around the ulcer or even distally about the foot. Histopathologic findings are microthrombi in the dermis and not confined exclusively to the ulcerated area. Cryofibrinogenemia can be secondary to an underlying disorder, so careful investigation to exclude other etiologies is always necessary.
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PMID:Cryofibrinogenemia-Induced Cutaneous Ulcers: A Review and Diagnostic Criteria. 2773 32

Cryofibrinogenaemia is a rare haematological disorder characterised by cold temperature-induced precipitation of plasma proteins causing small-vessel occlusive vascular disorder with a hallmark of skin ulceration. It remains an underdiagnosed entity because of a lack of diagnostic criteria. Cryoglobulinaemia vasculitis is a small-vessel vasculitis involving the skin, the joints, the peripheral nerve system and the kidneys. Its association with cryofibrinogenaemia causes more severe phenotype with poor prognosis. We describe the case of a 59-year-old woman presenting with cold-induced extensive bilateral foot gangrene due to coexisting cryofibrinogenaemia and cryoglobulinaemic vasculitis that required bilateral amputation and rituximab perfusions as maintenance therapy.
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PMID:Rare cause of bilateral foot gangrene: coexisting essential cryofibrogenaemia and cryoglobulinaemic vasculitis. 3113