Poblete-Gutiérrez P, Wiederholt T, Frank J
Klinik für Dermatologie und Allergologie, Universitätsklinikum der RWTH Aachen.
Hautarzt. 2004 Oct;55(10):952-9. doi: 10.1007/s00105-004-0797-1.
Over the last years, the genetic basis of several monogenic inherited metabolic diseases has been elucidated. Interestingly, some of these disorders manifest with characteristic cutaneous symptoms that are often crucial for diagnosis. In most cases, however, besides the skin other organs are affected. Therefore, an interdisciplinary supervision of these patients is highly important. In this review we will discuss diseases that constitute a challenge not only for dermatologists but also for physicians from other specialties. A particular emphasis is put on genetic and clinical features of these disorders as well as current therapeutic concepts.
在过去几年中，几种单基因遗传性代谢疾病的遗传基础已被阐明。有趣的是，其中一些疾病表现出特征性的皮肤症状，这些症状通常对诊断至关重要。然而，在大多数情况下，除了皮肤之外，其他器官也会受到影响。因此，对这些患者进行跨学科的监管非常重要。在这篇综述中，我们将讨论不仅对皮肤科医生，而且对其他专科医生都构成挑战的疾病。特别强调这些疾病的遗传和临床特征以及当前的治疗理念。
