عنوان

Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum

Number

LA7m95t6v6

.Language of Text, Soundtrack etc

انگلیسی

Title Proper

Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum

General Material Designation

[Article]

First Statement of Responsibility

Ng, Elise; Hale, Christopher S; Meehan, Shane A; Cohen, David E

Text of Note

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.

Date of Publication

2015

Title

Dermatology Online Journal

Volume Number

20/12

Entry Element

Ng, Elise; Hale, Christopher S; Meehan, Shane A; Cohen, David E

Electronic name

[Article]

275578

a

Y