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Giornale Italiano di Dermatologia e Venereologia 2013 February;148(1):37-51


language: English

Netherton syndrome and its multifaceted defective protein LEKTI

D’Alessio M. 1, Fortugno P. 2, Zambruno G. 1, Hovnanian A. 3, 4

1 Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata IDI-IRCCS, Rome, Italy; 2 Dermatology Unit, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy; 3 Université Paris V René Descartes, Sorbonne Paris Cité, INSERM U781, Imagine Institute, Paris, France; 4 Department of Genetics, Necker Hospital for Sick Children, Paris, France


Netherton syndrome (NS, OMIM 256500) is a rare autosomal recessive disorder manifesting with congenital ichthyosis, a specific hair shaft abnormality named trichorrhexis invaginata, and atopic manifestations. Because of severe complications frequently occurring in the neonatal period, NS prognosis can be poor in infancy. NS is due to loss-of-function mutations in the SPINK5 gene and to the consequent lack of expression of its encoded protein LEKTI in the skin and all stratified epithelial tissues. Following the identification of the NS causative gene and protein, specific diagnostic tools have been developed, thus breaking up the challenge of distinguishing NS from other congenital ichthyoses with overlapping features, and from severe, early-onset forms of atopic dermatitis or psoriasis. Intensive efforts to extend the knowledge into the pathomechanisms of NS have also been made. However, NS management is still problematic due to the lack of specific treatment and unmet needs. This overview summarizes the current state of the art in NS research with an emphasis on the progress made toward disease-specific innovative therapy development.

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