title: Monogenic human skin disorders.
abstract: Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with confluent and overlapping phenotypes often impeding a precise diagnosis in an affected individual. High-throughput sequencing techniques have expedited the identification of novel genes and have dramatically simplified the establishment of genetic diagnoses in such heterogeneous disorders. The precise genetic diagnosis of a skin disorder is crucial for the appropriate counselling of patients and their relatives regarding the course of the disease, prognosis and recurrence risks. Understanding the underlying pathophysiology is a prerequisite to understanding the disease and developing specific, targeted or individualized therapeutic approaches. We aimed to create a comprehensive overview of human genodermatoses and their respective genetic aetiology known to date. We hope this may represent a useful tool in guiding dermatologists towards genetic diagnoses, providing patients with individual knowledge on the respective disorder and applying novel research findings to clinical practice.
authors.affiliation: Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland.
authors.forename: Johannes R
authors.initials: JR
authors.lastname: Lemke
authors.forename: Kristin
authors.initials: K
authors.lastname: Kernland-Lang
authors.forename: Konstanze
authors.initials: K
authors.lastname: Hörtnagel
authors.forename: Peter
authors.initials: P
authors.lastname: Itin
mesh_terms: D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D010641:Phenotype; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*