Bair J S, Wu Y C, Lü Y C
Department of Dermatology, National Taiwan University Hospital, Taipei, R.O.C.
J Formos Med Assoc. 1991 Jan;90(1):99-104.
Cryofibrinogenemia, a rare disease, is diagnosed by the presence of reversible cryoprecipitate in plasma, which may cause various clinical manifestations of thromboembolic or hemorrhagic disorders. A 66-year-old female patient suffered from recurrent reticulate erythema, purpura and gangrene on the distal portion of the extremities and face during the winter for 5 years. Cryofibrinogenemia was proven with the following evidences: (1) Histopathologic findings revealed many eosinophilic cylinders, about 6-9 microns in diameter, deposited within the lumen of the blood vessels in the dermis and subcutaneous tissue. There was no evidence of vasculitis. These cylinders were fibrinogen in nature, as proven by direct immunofluorescence. (2) Cryofibrinogen was detected in the citrated plasma, which was confirmed by double immunodiffusion, the presence of an IgG-kappa M protein was also revealed by immunofixation. Debridement and skin grafts were performed, and prednisolone combined with cyclophosphamide were given. Skin lesions improved without recurrence, and the "cryocrit" decreased from 13.6% to less than 2% during the follow up. We conclude that if there is any case with the similar cutaneous manifestations, cryofibrinogenemia should be considered.
冷纤维蛋白原血症是一种罕见疾病，通过血浆中存在可逆性冷沉淀物来诊断，这可能导致血栓栓塞或出血性疾病的各种临床表现。一名66岁女性患者在冬季5年间四肢远端和面部反复出现网状红斑、紫癜和坏疽。冷纤维蛋白原血症通过以下证据得以证实：（1）组织病理学检查发现许多嗜酸性圆柱体，直径约6 - 9微米，沉积在真皮和皮下组织的血管腔内。没有血管炎的证据。经直接免疫荧光证实，这些圆柱体本质上是纤维蛋白原。（2）在枸橼酸盐血浆中检测到冷纤维蛋白原，通过双向免疫扩散得以确认，免疫固定法还显示存在IgG - κM蛋白。进行了清创和皮肤移植，并给予泼尼松龙联合环磷酰胺治疗。皮肤病变改善且未复发，随访期间“冷沉淀比容”从13.6%降至2%以下。我们得出结论，如果有任何具有相似皮肤表现的病例，应考虑冷纤维蛋白原血症。
