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Keratinopathic ichthyoses

Keith Choate, MD, PhD
Section Editor
Jennifer L Hand, MD
Deputy Editor
Rosamaria Corona, MD, DSc


The keratinopathic ichthyoses (KPI) are a group of rare cornification disorders caused by mutations in one of the keratin genes, resulting in abnormalities of the keratin intermediate filaments, a component of the keratinocyte cell cytoskeleton. KPI encompass a spectrum of clinical phenotypes of varying severity. Disorders in the KPI group include epidermolytic ichthyosis, superficial epidermolytic ichthyosis, annular epidermolytic ichthyosis, ichthyosis Curth-Macklin, and ichthyosis with confetti [1].

This topic will review the pathogenesis, clinical manifestations, diagnosis, and management of KPI. A general overview of the ichthyoses is presented separately. Recessive X-linked ichthyosis, Netherton syndrome, Sjögren-Larsson syndrome, and peeling skin syndrome are also discussed separately.

(See "Overview and classification of the inherited ichthyoses".)

(See "Recessive X-linked ichthyosis".)

(See "Netherton syndrome".)

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Literature review current through: Dec 2017. | This topic last updated: Sep 06, 2017.
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