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Netherton syndrome (Online Mendelian Inheritance in Man No. 256500 [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256500]) is a rare, autosomal recessive genetic disorder characterized by infantile erythroderma, a chronic eczematous dermatitis, ichthyosis linearis circumflexa, sparse brittle hair with hair-shaft abnormalities (trichorrhexis invaginata), variable immunologic defects, and failure to thrive. Recent genetic studies in patients with Netherton syndrome have identified mutations in the SPINK5 gene, which encodes the serine protease inhibitor Kazal type 5,¹ that are thought to result in impaired epidermal barrier function, increased transepidermal water loss, increased susceptibility to infection, and increased permeability to exogenous agents.

The dermatologic manifestations of Netherton syndrome can be severe, with unremitting pruritus as well as chronic erythroderma. While topical steroids have been of only limited benefit, recent studies have demonstrated clinical improvement with the use of topical calcineurin inhibitors,^2-3 including topical tacrolimus. Although several studies have documented normal (undetectable) serum levels of tacrolimus in otherwise healthy children . . . [Full Text of this Article]

Report of Cases


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AUTHOR INFORMATION
Kara N. Shah, MD, PhD; Albert C. Yan, MD