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Hereditary Disorders of Cornification

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Therapy in Pediatric Dermatology

Abstract

The disorders of cornification (DOC) are a heterogeneous group of inherited conditions that involve abnormal keratinocyte differentiation resulting in dry, scaling, thickened skin, and variable degrees of associated inflammation. The general goals of therapy for children with DOC are to: (i) preserve function; (ii) maximize the quality of life by improving itch, sleep, and appearance; and (iii) prevent complications such as infection, dehydration, and poor growth. The mechanism of action, appropriate use, and side effects of specific therapies such as emollients, keratolytics, antimicrobials, bath additives, physical treatments, retinoids, retinoic acid, metabolism blocking agents, and targeted therapy are discussed. We then present the therapeutic ladders supported by evidence for selected DOC such as non-syndromic ichthyoses, Netherton syndrome, Sjogren-Larsson syndrome, Darier disease, and palmoplantar keratodermas.

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Authors and Affiliations

  1. Dermatology and Pediatrics, University of California San Francisco, San Francisco, CA, USA

    Erin F. Mathes

  2. UCSF Pediatric Dermatology, University of California San Francisco, San Francisco, CA, USA

    Shanna Spring

  3. Pediatric Dermatology Unit, Schneinder Children’s Medical Center of Isarael, Petach Tiqva, Israel

    Rivka Friedland

  4. Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Amy S. Paller

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  1. Erin F. Mathes
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  2. Shanna Spring
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  4. Amy S. Paller
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Correspondence to Amy S. Paller .

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Editors and Affiliations

  1. Stanford University School of Medicine, Stanford, California, USA

    Joyce M.C. Teng

  2. Stanford University School of Medicine, Stanford, California, USA

    Ann L. Marqueling

  3. Pediatric Dermatology, Joe DiMaggio Children’s Hospital, Hollywood, Florida, USA

    Latanya T. Benjamin

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Mathes, E.F., Spring, S., Friedland, R., Paller, A.S. (2017). Hereditary Disorders of Cornification. In: Teng, J., Marqueling, A., Benjamin, L. (eds) Therapy in Pediatric Dermatology. Springer, Cham. https://doi.org/10.1007/978-3-319-43630-2_5

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