持久多形红斑样皮肤型慢性活动性EB病毒病1例

A case of cutaneous chronic active Epstein-Barr virus disease manifesting as persistent erythema multiforme

报道国内首例持久多形红斑样皮肤型慢性活动性EB病毒病。患儿女,12岁,因全身反复红斑水疱伴口腔糜烂5个月余就诊。皮肤科检查:右上眼睑、面颊散在暗红斑,下颌见暗红斑上糜烂面及水疱;背部、臀部、四肢见红斑基础上蚕豆至鸽蛋大小水疱,疱液清,部分呈不典型靶形损害;下唇黏膜、右侧颊黏膜各见一绿豆大小糜烂面;满月脸,双下肢较多萎缩纹。下肢皮损组织病理检查:网篮状角化过度,表皮坏死,基底细胞液化变性伴表皮下水疱形成,真皮浅层血管周围淋巴细胞为主的炎症细胞浸润;直接免疫荧光检查示表皮细胞间及基底膜带IgG、IgA、IgM、补体C3均为阴性;酶联免疫吸附试验示血清抗桥粒芯蛋白Dsg1/3抗体、抗BP180抗体和抗Ⅶ型胶原抗体均为阴性;免疫组化:CD3、CD4、CD5、CD8、CD56、颗粒酶B、EB病毒编码RNA均显示部分阳性,Ki67>70%阳性,CD20阴性。全血EB病毒DNA 1.97×10^(6) IU/ml,疱液EB病毒DNA 2.65×10^(7) IU/ml。全基因外显子组检测:未见有意义突变位点。诊断:持久多形红斑样皮肤型慢性活动性EB病毒病。治疗:甲泼尼龙40 mg/d、更昔洛韦200 mg每日2次静脉滴注等治疗,患儿病情好转后出院。

To report the first case of cutaneous chronic active Epstein-Barr virus disease manifesting as persistent erythema multiforme in China.The 12-year-old female patient presented with recurrent erythema and blisters all over the body,accompanied by oral erosions for more than 5 months.Skin examination showed dark erythema scattered on the right upper eyelid and cheeks,as well as erosions and blisters arising in the dark erythema on the lower jaw;broad bean-to pigeon egg-sized blisters with clear fluids arising in erythema were scattered on the back,buttocks,and limbs,and some manifested as atypical targetoid lesions;there was a mung bean-sized erosion on the mucosa of the lower lip and the right buccal region each;the patient also presented with moon face and multiple striae atrophicae on the lower limbs.Histopathological examination of the skin lesions on the lower limb revealed basket-weave hyperkeratosis,epidermal necrosis,liquefaction degeneration of basal cells with subepidermal blister formation,and perivascular lymphocytic infiltration in the superficial dermis;direct immunofluorescence assay showed negative staining for IgG,IgM,IgA,and complement C3 among epidermal cells and at the basement membrane zone;enzyme-linked immunosorbent assay showed negative staining for serum antibodies against desmoglein 1/3(Dsg1/3),BP180,and typeⅦcollagen;immunohistochemical examination demonstrated partial positive staining for CD3,CD4,CD5,CD8,CD56,granzyme B,and Epstein-Barr virus-encoded RNA,positive staining for Ki67(>70%),but negative staining for CD20.The Epstein-Barr virus DNA level was measured to be 1.97×10^(6) IU/ml in whole blood samples and 2.65×10^(7) IU/ml in blister fluid samples.No mutation sites with functional significance were identified by whole-exome sequencing.Based on these findings,a diagnosis of cutaneous chronic active Epstein-Barr virus disease manifesting as persistent erythema multiforme was made.The patient was treated with methylprednisolone at a dose of 40 mg/d,intravenous drips of ganciclovir at 200 mg twice daily,etc.,and discharged after improvement.