Monogenic Human Skin Disorders

Lemke, Johannes R.; Kernland Lang, Kristin Helene; Hörtnagel, Konstanze; Itin, Peter (2014). Monogenic Human Skin Disorders. Dermatology, 229(2), pp. 55-64. Karger 10.1159/000362200

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology

UniBE Contributor:

Kernland Lang, Kristin Helene

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1018-8665

Publisher:

Karger

Language:

English

Submitter:

Monika Schenk

Date Deposited:

15 Apr 2015 08:44

Last Modified:

19 Oct 2015 11:31

Publisher DOI:

10.1159/000362200

PubMed ID:

25012694

BORIS DOI:

10.7892/boris.63864

URI:

https://boris.unibe.ch/id/eprint/63864

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