兄弟同患Bloom综合征  

Bloom＇s syndrome in two brothers

作　　者：李向花[1] 王昊[1] 汪京峡[2] 杨一飞[1] 杨文斌[1] 马梅[1] 陆敏[1] 

机构地区：[1]宁夏医科大学,银川750004 [2]宁夏医科大学总医院皮肤科

出　　处：《中华皮肤科杂志》2012年第5期357-358,共2页Chinese Journal of Dermatology

摘　　要：例1，男，9岁，回族。颜面、耳扇i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。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 buceal region, with mild pruritus and scaling. Meanwhile, the skin of both legs was dry and sealing and gave an ichthyosiform 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.

关 键 词：BLOOM综合征 毛细血管扩张性 同患 皮肤干燥 辅助检查 染色体检查 鱼鳞病样 自行缓解 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]