角膜炎-鱼鳞病-耳聋综合征、非典型连接蛋白GJB2基因突变与外周T细胞淋巴瘤：仅是随机关联？
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
作者信息
Fozza Claudio, Poddie Fausto, Contini Salvatore, Galleu Antonio, Cottoni Francesca, Longinotti Maurizio, Cucca Francesco
机构信息
Institute of Hematology, University of Sassari, 07100 Sassari, Italy.
出版信息
Case Rep Hematol. 2011;2011:848461. doi: 10.1155/2011/848461. Epub 2011 Aug 10.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.
角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的先天性疾病，其特征为皮肤病变、神经性听力减退和角膜炎，通常由涉及连接蛋白26基因的c.148G→A突变引起。我们报告了一名患有KID综合征的患者，该患者表现出非典型的c.101T→C突变，并发生了T细胞淋巴瘤，这在该组患者中尚未有过描述。
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