Netherton Syndrome

GeoTagged, [S12.99498, E38.51843]

Conhecida como síndrome da pele escaldada. Ao nascer a criança apresenta múltiplas vesículas e bolhas o que dá um aspecto clinico de grande queimado
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http://www.nature.com/ng/journal/v42/n8/pdf/ng.629.pdf

Sumario
Neste artigo experimental os aspectos genéticos foram avaliados
NATURE GENETICS | ARTICLE

Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome

Katiuchia Uzzun Sales, Andrius Masedunskas, Alexandra L Bey, Amber L Rasmussen, Roberto Weigert, Karin List, Roman Szabo, Paul A Overbeek & Thomas H Bugge
AffiliationsContributionsCorresponding author
Nature Genetics 42, 676–683 (2010) doi:10.1038/ng.629
Received 01 April 2010 Accepted 17 May 2010 Published online 25 July 2010
Abstract

Deficiency in the serine protease inhibitor LEKTI is the etiological origin of Netherton syndrome, which causes detachment of the stratum corneum and chronic inflammation. Here we show that the membrane protease matriptase initiates Netherton syndrome in a LEKTI-deficient mouse model by premature activation of a pro-kallikrein cascade. Auto-activation of pro-inflammatory pro-kallikrein-related peptidases that are associated with stratum corneum detachment was either low or undetectable, but they were efficiently activated by matriptase. Ablation of matriptase from LEKTI-deficient mice dampened inflammation, eliminated aberrant protease activity, prevented detachment of the stratum corneum, and improved the barrier function of the epidermis. These results uncover a pathogenic matriptase–pro-kallikrein pathway that could operate in several human skin and inflammatory diseases.