title: Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.
abstract: 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.
authors.affiliation: New York University School of Medicine.
authors.forename: Elise
authors.initials: E
authors.lastname: Ng
authors.forename: Christopher S
authors.initials: CS
authors.lastname: Hale
authors.forename: Shane A
authors.initials: SA
authors.lastname: Meehan
authors.forename: David E
authors.initials: DE
authors.lastname: Cohen
mesh_terms: D005260:Female; D006201:Hair Diseases / Q000473:pathology*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000473:pathology; D056770:Netherton Syndrome / Q000473:pathology*; D055815:Young Adult