表皮松解性大疱病表皮真皮连接处发生鳞癌的危险增大  

Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa

作　　者：Mallipeddi R. Keane F.M. Mc Grath J.A. R.A.J. Eady 张宪旗 

机构地区：[1]Guy's King's/St Thomas'Sch. of Med., St John's Institute of Dermatology, St Thomas'Hospital, London SE1 7EH, United Kingdom

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2005年第2期48-48,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Non-Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive genodermatosis characterized by skin fragility and blistering. It is usually caused by mutations in the genes encoding the basement membrane proteins laminin 5 or type XVII collagen. Clinically, impairedwound healing and chronic erosions cause major morbidity in affected patients. Previously it was thought that these individuals, unlike patients with dystrophic EB, did not have an increased risk of developing skin cancer. However, we describe three patients with non-Herlitz JEB (aged 42, 56 and 75 years) who developed cutaneous squamous cell carcinomas (SCCs). The tumours were well-differentiated in two cases, but one patient had multiple primary SCCs that were either well-or moderately differentiated. Most cases of SCC in non-Herlitz JEB described have occurred in those with laminin 5 defects and on the lower limbs. These clinicopathological observations have important implications for the management of patients with this mechanobullous disorder as well as providing further insight into the biology of skin cancer associated with chronic inflammation and scarring.Non-Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive genodermatosis characterized by skin fragility and blistering. It is usually caused by mutations in the genes encoding the basement membrane proteins laminin 5 or type XVII collagen. Clinically, impairedwound healing and chronic erosions cause major morbidity in affected patients. Previously it was thought that these individuals, unlike patients with dystrophic EB, did not have an increased risk of developing skin cancer. However, we describe three patients with non-Herlitz JEB (aged 42, 56 and 75 years) who developed cutaneous squamous cell carcinomas (SCCs). The tumours were well-differentiated in two cases, but one patient had multiple primary SCCs that were either well-or moderately differentiated. Most cases of SCC in non-Herlitz JEB described have occurred in those with laminin 5 defects and on the lower limbs. These clinicopathological observations have important implications for the management of patients with this mechanobullous disorder as well as providing further insight into the biology of skin cancer associated with chronic inflammation and scarring.

关 键 词：表皮松解 大疱 鳞癌 LAMININ 多发型 临床病理学 营养不良性 基因突变 于非 

分 类 号：R739.5[医药卫生—肿瘤]