Netherton syndrome is a severe subtype of congenital ichthyosis caused by mutations in SPINK5 encoding the lymphoepithelial kazal-type related inhibitor (LEKTI), serine protease that regulates activity kallikreins skin. Loss LEKTI leads to increased activity, resulting disrupted skin barrier and enhanced susceptibility infections. Current therapeutic options are mainly inadequate. Previously, r...

OBJECTIVE To determine the frequency of the various underlying causes of erythroderma in newborns or infants, as well as which clinical or laboratory findings were relevant for the etiological diagnosis. PATIENTS Fifty-one patients who presented with exfoliative erythroderma during their first year of life were included in this retrospective study. SETTING Department of Pediatric Dermatolog...

Netherton Syndrome (NS) is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after[1]. Its incidence is estimated to be 1/200,000[2]. NS presents in most (but not all) patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin[3]. Other common featur...

Netherton syndrome (NS) is a rare autosomal reces-sive genodermatosis caused by SPINK-5 mutations. The SPINK-5 gene encodes the serine protease inhibitor LEKTI and is located on chromosome 5q32. Unopposed degradation of corneodesmosomes is the basis for a severely impaired skin barrier function in patients with NS. Effective treatments for patients with NS are limited. Some success has been ach...

Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 encoding the LEKTI serine protease inhibitor. LEKTI deficiency results in unopposed activities of kal...