Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
June 2012
in “
European journal of human genetics
”
Studysummary This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
Inherited ichthyoses, a group of generalized Mendelian disorders of cornification, were characterized by visible scaling and/or hyperkeratosis affecting most or all of the skin. These conditions were caused by mutations in various genes crucial for keratinocyte differentiation and epidermal barrier function. Diagnosing specific entities posed challenges for nonspecialists due to common clinical presentations. The review provided an algorithmic approach to help clinicians use diagnostic clues to narrow down differential diagnoses and guide further testing and treatment options.
