- Keith Choate, MD, PhD
Keith Choate, MD, PhD
- Associate Professor of Dermatology, Genetics, and Pathology
- Yale University School of Medicine
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 .
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 "Recessive X-linked ichthyosis".)
●(See "Netherton syndrome".)
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- CLINICAL PHENOTYPES
- Epidermolytic ichthyosis
- Minor variants
- - Superficial epidermolytic ichthyosis
- - Ichthyosis hystrix Curth-Macklin and ichthyosis Lambert type
- - Ichthyosis with confetti
- - Annular epidermolytic ichthyosis
- DIFFERENTIAL DIAGNOSIS
- General measures
- Topical and systemic retinoids
- SUMMARY AND RECOMMENDATIONS