中华皮肤科杂志
中華皮膚科雜誌
중화피부과잡지
Chinese Journal of Dermatology
2012年
5期
357-358
,共2页
李向花%王昊%汪京峡%杨一飞%杨文斌%马梅%陆敏
李嚮花%王昊%汪京峽%楊一飛%楊文斌%馬梅%陸敏
리향화%왕호%왕경협%양일비%양문빈%마매%륙민
例1,男,9岁,回族.颜面、耳廓反复起红斑8年.出生7个月双颧部出现毛细血管扩张性红斑,渐累及耳廓和前臂,双小腿皮肤出现轻度鱼鳞病样外观,5岁时口唇出现水疱、糜烂,皮损夏季日光强烈时出现并渐加重,冬季自行缓解或消失.例2,例1胞弟.男,3岁,回族.颜面部反复起红斑2年.1岁时双颧部开始出现红斑,渐扩延至颊部,伴轻微瘙痒和脱屑,期间,小腿皮肤干燥、脱屑,呈鱼鳞样改变;皮损每于夏季来临时出现,且渐加重,随冬季到来皮损渐消失.2例各系统检查未发现异常,身高正常;实验室、病理及其他辅助检查无有意义的阳性发现,染色体检查正常.患儿父母为姨表近亲结婚,诊断为Bloom综合征.
例1,男,9歲,迴族.顏麵、耳廓反複起紅斑8年.齣生7箇月雙顴部齣現毛細血管擴張性紅斑,漸纍及耳廓和前臂,雙小腿皮膚齣現輕度魚鱗病樣外觀,5歲時口脣齣現水皰、糜爛,皮損夏季日光彊烈時齣現併漸加重,鼕季自行緩解或消失.例2,例1胞弟.男,3歲,迴族.顏麵部反複起紅斑2年.1歲時雙顴部開始齣現紅斑,漸擴延至頰部,伴輕微瘙癢和脫屑,期間,小腿皮膚榦燥、脫屑,呈魚鱗樣改變;皮損每于夏季來臨時齣現,且漸加重,隨鼕季到來皮損漸消失.2例各繫統檢查未髮現異常,身高正常;實驗室、病理及其他輔助檢查無有意義的暘性髮現,染色體檢查正常.患兒父母為姨錶近親結婚,診斷為Bloom綜閤徵.
례1,남,9세,회족.안면、이곽반복기홍반8년.출생7개월쌍권부출현모세혈관확장성홍반,점루급이곽화전비,쌍소퇴피부출현경도어린병양외관,5세시구진출현수포、미란,피손하계일광강렬시출현병점가중,동계자행완해혹소실.례2,례1포제.남,3세,회족.안면부반복기홍반2년.1세시쌍권부개시출현홍반,점확연지협부,반경미소양화탈설,기간,소퇴피부간조、탈설,정어린양개변;피손매우하계래림시출현,차점가중,수동계도래피손점소실.2례각계통검사미발현이상,신고정상;실험실、병리급기타보조검사무유의의적양성발현,염색체검사정상.환인부모위이표근친결혼,진단위Bloom종합정.
The patient 1 was a 9-year-old boy of Hui nationality who presented with recurrent erythema over the face and auricles for 8 years.Telangiectasis and erythema developed on both cheeks 7 months after birth,which gradually spread to the auricles,forearms and both legs with a mild ichthyosiform appearance.At 5 years of age blisters and erosions appeared on the lips,which occurred and were aggravated after exposure to strong sunlight during summer and spontaneously subsided or disappeared in winter.The patient 2,a 3-year-old boy who was the younger brother of the patient 1,presented with recurrent erythema for 2 years.At 1 year of age,erythema began to appear on both cheeks and gradually spread to the buccal region,with mild pruritus and scaling.Meanwhile,the skin of both legs was dry and scaling and gave an ichthyosifonn appearance.The lesions usually appeared in early summer and gradually subsided in winter.No abnormality was found by systemic,laboratory,pathological or other auxiliary examination.Chromosomal abnormality was undetected.Body height was normal.The parents of the two siblings were first cousins.Both children were diagnosed with Bloom's syndrome.