Dupré A, Bonafé J L, Carrère S
Ann Dermatol Venereol. 1978 Jan;105(1):49-54.
We have recently observed 4 new particularly demonstrative cases and we think it is adequate to give a general conception in order to bring together in one and a single syndrom the ichthyosis linearis circumflexa Comel and the Netherton's syndrom. We also emphasize some features:--the possible association of ichthyosis linearis circumflexa with family epileptogenous encephalopathy;--a particular type of trichorrhexis which we named "frayed pili torti";--the usual lethality in males, with possible serious viral and pyococcic superinfection;--the characteristics of ichtyosiform erythroderma in the Netherton's syndrom. At the end of this study we confirm that a unicist theory which would consider Netherton's syndrom and ichthyosis linearis circumflexa as one and a single disease should be adopted.
我们最近观察到4个新的极具代表性的病例,并且我们认为给出一个总体概念是恰当的,以便将回旋线状鱼鳞病(科梅尔型)和 Netherton 综合征归为单一综合征。我们还强调了一些特征:回旋线状鱼鳞病可能与家族性癫痫性脑病相关;一种特殊类型的毛发干劈裂,我们将其命名为“纠结扭曲发”;男性通常具有致死性,可能伴有严重的病毒和化脓性球菌重叠感染;Netherton 综合征中鱼鳞癣样红皮病的特征。在本研究末尾,我们确认应采用单一基因理论,即将 Netherton 综合征和回旋线状鱼鳞病视为同一种疾病。