Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification

June 2012 in “ European journal of human genetics ”

Matthias Schmuth, Verena Martinz, Andreas R. Janecke, Christine Fauth, Anna Schossig, Johannes Zschocke, Robert Gruber

inherited ichthyoses Mendelian disorders of cornification scaling hyperkeratosis keratinocyte differentiation epidermal barrier function

TLDR Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

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.

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research Follicular Ichthyosis: A Study of Four Patients with Congenital Follicular Hyperkeratosis

17 citations, July 1984 in “British journal of dermatology/British journal of dermatology, Supplement”

The four patients have a unique type of ichthyosis affecting hair follicles.