Ena P, Pinna A
Institute of Dermatology, University of Sassari, Sassari, Italy.
Clin Exp Dermatol. 2003 Sep;28(5):493-5. doi: 10.1046/j.1365-2230.2003.01335.x.
Classic lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations in the transglutaminase 1 gene. Pseudoainhum is characterized by the appearance of a constricting band around a digit which may lead to spontaneous amputation. We describe a 41-year-old man with classic lamellar ichthyosis with unusual eye changes and pseudoainhum of both the fifth and the third right toes. Eye abnormalities included bilateral ectropion of the lower eyelids, chronic blepharitis, and nuclear cataract. A radiometric assay revealed greatly reduced skin transglutaminase activity. To the best of our knowledge, this report is unique as classic lamellar ichthyosis with deficient transglutaminase activity has never been associated with pseudoainhum of the toes and the early development of nuclear cataract.
板层状鱼鳞病是一种罕见的常染色体隐性遗传性皮肤病，由转谷氨酰胺酶1基因突变引起，具有遗传异质性。自发性断指（趾）症的特征是手指（脚趾）周围出现缩窄带，可能导致自发性截肢。我们报告了一名41岁男性，患有板层状鱼鳞病，伴有异常眼部改变以及右足第五趾和第三趾的自发性断指（趾）症。眼部异常包括双侧下睑外翻、慢性睑缘炎和核性白内障。放射免疫分析法显示皮肤转谷氨酰胺酶活性大幅降低。据我们所知，本报告具有独特性，因为转谷氨酰胺酶活性缺乏的板层状鱼鳞病从未与脚趾自发性断指（趾）症及核性白内障的早期发生相关联。
