LIFELONG SCALING AND BLISTERING IN A FAMILY
LIFELONG SCALING AND BLISTERING IN A FAMILY
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DOI：
10.1111/j.1525-1470.2010.01229.x
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发表时间：
2010-11-01
影响因子：
1.5
通讯作者：
Judge, M.
中科院分区：
文献类型：
--
作者：
Langan, E. A.;Jamieson, L. A.;Judge, M.
西门子大疱性鱼鳞病是一种遗传性皮肤病，在儿童时期表现为轻度水疱和角化过度。即使存在明显的家族史，异质的临床表现也可能导致误诊。基因检测和咨询可能有助于诊断和治疗。
Ichthyosis bullosa of Siemens is a genodermatosis, which presents in childhood with mild blistering and hyperkeratosis. The heterogenous clinical presentation may lead to misdiagnosis, even in the presence of a strong family history. Genetic testing and counselling may help in diagnosis and treatment.