Abstract
Several pathogenic mutations have been identified in the SPINK5 gene encoding kazal-type serine protease inhibitors (LEKTI) involved in the regulation of skin barrier formation resulting in Netherton syndrome NS. Our work aims to study the clinical, histological and genetic characteristics of Tunisian patients with NS. We investigated 15 patients with NS from 12 unrelated Tunisian families, referred to our department for genetic confirmation of their diagnosis. Clinical examination at birth showed non-bullous congenital ichthyosiform erythroderma (EIC) in 14 patients, bullous in only one.
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