Saral S, Vural A, Wollenberg A, Ruzicka T
Department of Dermatology and Venereology, Ankara University, Ankara, Turkey.
Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
Clin Genet. 2017 Jun;91(6):799-812. doi: 10.1111/cge.12828. Epub 2016 Aug 22.
Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high consanguinity rates. Frequently, clinicians cannot make a definitive diagnosis and patients are not managed properly owing to the rarity and complexity of these disorders. These difficulties make this group of ichthyosis and the patients living with them 'orphan'. After skin and skin appendages, nervous system is the most frequently involved system in ichthyosis syndromes. Thus, association of ichthyosis with neurological symptoms provides an important clue for diagnosis. In this article, we aim to increase clinicians' comprehension of ichthyosis syndromes by providing a symptomatology-based approach based on this observation. Additionally, we provide a review of ichthyosis syndromes, with special emphasis on neurological symptoms, hoping to attract interest to this complicated field.
就患者数量而言，遗传性鱼鳞病是罕见疾病，但在临床-遗传亚型方面却种类繁多。这些疾病除了会引发严重的医疗、美容和社会问题外，还常常伴有严重的全身表现。迄今为止，已确定有17种综合征性鱼鳞病亚型，大多数患有这些综合征的患者生活在近亲结婚率高的国家。由于这些疾病罕见且复杂，临床医生常常无法做出明确诊断，患者也得不到妥善治疗。这些困难使得这一类鱼鳞病及其患者成为“孤儿”。在鱼鳞病综合征中，除皮肤和皮肤附属器外，神经系统是最常受累的系统。因此，鱼鳞病与神经症状的关联为诊断提供了重要线索。在本文中，我们旨在基于这一观察结果，通过提供一种基于症状学的方法，增强临床医生对鱼鳞病综合征的理解。此外，我们对鱼鳞病综合征进行了综述，特别强调了神经症状，希望能引起大家对这个复杂领域的关注。
