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" Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum "
Ng, Elise; Hale, Christopher S; Meehan, Shane A; Cohen, David E
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AL
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| Record Number
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924980
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LA7m95t6v6
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| Language of Document
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English
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| Main Entry
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Ng, Elise; Hale, Christopher S; Meehan, Shane A; Cohen, David E
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| Title & Author
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Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum [Article]\ Ng, Elise; Hale, Christopher S; Meehan, Shane A; Cohen, David E
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| Title of Periodical
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Dermatology Online Journal
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| Volume/ Issue Number
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20/12
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| Date
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2015
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| Abstract
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Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa; hair shaft abnormalities tend to present later. The disorder is caused by loss-of-function mutations in the SPINK5 (serine protease inhibitor Kazal-type 5) gene that encodes LEKTI (lympho-epithelial Kazal-type related inhibitor), which is a protease inhibitor that counteracts epidermal proteases involved in desquamation. Use of topical medications is limited by potential for systemic absorption and toxicity in the setting of a defective skin barrier. Therapeutic options include topical glucocorticoids and retinoids, oral retinoids, and narrowband ultraviolet B phototherapy. Topical tacrolimus has been shown to be efficacious and may be used safely with careful laboratory monitoring.
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