PDF(Pubmed)
Abstract：
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic forms. To date, mutations in more than 30 genes are known to result in various types of syndromic ichthyoses, which, in addition to mostly generalised scaling and hyperkeratosis of the skin, also show additional organ involvement. The syndromic ichthyoses are generally very rare and are classified based on the mode of inheritance, and can be further subdivided according to the predominant symptoms. In our review we provide a concise overview of the most prevalent syndromic forms of ichthyosis within each subgroup. We emphasize the importance of the clinical assessment of complex syndromes even in the era of genetic testing as a first-tier diagnostic and specifically the need to actively assess potential organ involvement in patients with ichthyosis, thereby enabling efficient diagnostic and therapeutic approaches and timely access to specialized centers for rare disorders of cornifications. As part of the Freiburg Center for Rare Diseases a Center for Cornification Disorders was recently established with collaboration of the Institute of Human Genetics and the Department of Dermatology. An early diagnosis of syndromes will be of direct benefit to the patient regarding interventional and therapeutic measures e. g. in syndromes with cardiac or metabolic involvement and allows informed reproductive options and access to prenatal and preimplantation genetic diagnosis in the family.
摘要：
遗传性鱼鳞病被归类为孟德尔角质病（MEDOC），根据临床和遗传特征进一步定义，可分为非综合征型和综合征型。迄今为止,已知30多个基因的突变会导致各种类型的综合征鱼鳞病，which,除了大部分皮肤普遍的鳞屑和角化过度，还显示额外的器官受累。综合征鱼鳞病通常非常罕见，根据遗传方式进行分类，并可根据主要症状进一步细分。在我们的评论中，我们提供了每个亚组中最常见的鱼鳞病综合征形式的简要概述。我们强调，即使在基因检测作为一级诊断的时代，临床评估复杂综合征的重要性，特别是需要积极评估鱼鳞病患者的潜在器官受累，从而实现有效的诊断和治疗方法，并及时进入专门的中心治疗罕见的角化疾病。作为弗莱堡罕见疾病中心的一部分，最近与人类遗传学研究所和皮肤病学系合作成立了角化障碍中心。在介入和治疗措施方面，对综合征的早期诊断将对患者有直接益处。G.在有心脏或代谢参与的综合征中，并允许知情的生殖选择以及在家庭中获得产前和植入前遗传学诊断。
