European Journal of Dermatology
MENUExocrine pancreatic insufficiency in a child with Netherton syndrome Volume 26, issue 3, May-June 2016
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1 University François Rabelais Tours,
37000 Tours
37000 Tours
3 Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC),
University Paris Descartes - Sorbonne Paris Cité,
Institute Imagine,
University Hospital Necker-Enfants Malades,
APHP,
75015 Paris
University Paris Descartes - Sorbonne Paris Cité,
Institute Imagine,
University Hospital Necker-Enfants Malades,
APHP,
75015 Paris
- DOI : 10.1684/ejd.2016.2761
- Page(s) : 311-2
- Published in: 2016
Netherton syndrome is an autosomal recessive disease (OMIM 256500), the clinical diagnosis of which can be confirmed with an immunohistochemical study of a skin biopsy showing the absence of lympho-epithelial Kazal-type-related inhibitor (LEKTI) and/or genetic analysis [1]. LEKTI is a serine protease present in cutaneous and mucosal epithelia and the thymus. Lack of this protease inhibitor induces imbalanced protease and anti-protease activity, leading to premature desquamation of the horny layer [...]