Koide Masayo, Shirahama Shigeho, Tokura Yoshiki, Takigawa Masahiro, Hayakawa Masakatsu, Furukawa Fukumi
Division of Dermatology, Hamamatsu Red Cross Hospital, Japan.
J Dermatol. 2002 Aug;29(8):503-7. doi: 10.1111/j.1346-8138.2002.tb00316.x.
We report here a patient with skin lesions of lupus erythematosus (LE) associated with a type 1 hereditary C1 inhibitor deficiency. She had not experienced any episodes of angioedema. A histological examination of the affected skin lesions demonstrated liquefaction of the basal cell layer in the perifollicule. Direct immunofluorescence staining revealed the granular deposition of IgM along the dermo-epidermal junction. Blood laboratory examinations revealed low levels of CH50, C1q, C4, C2 and C1 inhibitor, but the C3 and C5 levels were within normal limits. Similar reductions in the C1 inhibitor levels were observed in 2 out of 3 sisters. Although one sister has been asymptomatic until now, the other has suffered from SLE. The antinuclear antibody titer was negative initially, but has changed to positive. The skin lesions became pigmented following topical corticosteroid therapy, but the deficient complement component levels remained unchanged. We also reviewed 23 cases in the literature of hereditary C1 inhibitor deficiency associated with SLE, DLE, LE-like eruption, and SCLE and discussed several common characteristics such as a female predominance, a high incidence of antinuclear antibodies, cutaneous manifestations, and photosensitivity.
我们在此报告一名患有红斑狼疮（LE）皮肤病变且伴有1型遗传性C1抑制物缺乏症的患者。她未曾经历过任何血管性水肿发作。对受累皮肤病变进行组织学检查显示毛囊周围基底细胞层液化。直接免疫荧光染色显示IgM沿真皮-表皮交界处呈颗粒状沉积。血液实验室检查显示CH50、C1q、C4、C2和C1抑制物水平较低，但C3和C5水平在正常范围内。在3个姐妹中的2个中观察到类似的C1抑制物水平降低。尽管一个姐妹至今无症状，但另一个患有系统性红斑狼疮（SLE）。抗核抗体滴度最初为阴性，但后来变为阳性。局部使用皮质类固醇治疗后皮肤病变出现色素沉着，但补体成分缺乏水平保持不变。我们还回顾了文献中23例与SLE、盘状红斑狼疮（DLE）、LE样皮疹和亚急性皮肤型红斑狼疮（SCLE）相关的遗传性C1抑制物缺乏症病例，并讨论了几个共同特征，如女性占主导、抗核抗体高发生率、皮肤表现和光敏性。
