Netherton Syndrome: Insights into Pathogenesis and Clinical Implications

Elena Chiticariu; Daniel Hohl

doi:10.1016/j.jid.2019.11.007

Netherton Syndrome: Insights into Pathogenesis and Clinical Implications

J Invest Dermatol. 2020 Jun;140(6):1129-1130. doi: 10.1016/j.jid.2019.11.007.

Authors

Elena Chiticariu¹, Daniel Hohl²

Affiliations

¹ Service of Dermatology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
² Service of Dermatology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. Electronic address: daniel.hohl@chuv.ch.

PMID: 32446331
DOI: 10.1016/j.jid.2019.11.007

Abstract

Netherton syndrome (NS) is a rare skin disorder involving the skin, hair, and immune system. Pathological manifestations are due to unopposed kallikrein peptidase activity because of a SPINK5 gene deficiency. In their article, Gouin et al. explore the role of kallikrein 14 in the stratum granulosum, defining it as an important player implicated in the pathogenesis of NS hair shaft anomalies.

Publication types

Comment

MeSH terms

Animals
Desmoglein 3
Kallikreins
Mice
Mice, Transgenic
Netherton Syndrome* / diagnosis
Netherton Syndrome* / genetics
Serine Peptidase Inhibitor Kazal-Type 5

Substances

Desmoglein 3
Serine Peptidase Inhibitor Kazal-Type 5
Kallikreins