[Inherited metabolic disorders with cutaneous manifestations].
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.
Poblete-Gutiérrez
P
P
Klinik für Dermatologie und Allergologie, Universitätsklinikum der RWTH Aachen.
Wiederholt
T
T
Frank
J
J
D003937:Diagnosis, Differential; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010348:Patient Care Team; D011379:Prognosis; D012875:Skin Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy