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...

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...

Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity i...

Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor LEKTI. NS is characterised by congenital ichthyosiform ...

Sir, Netherton syndrome (NS) is a rare autosomal recessive disorder of keratinization. It is caused by a mutation of the SPINK5 gene that encodes a multidomain serine protease inhibitor (LEKTI) predominantly expressed in epithelial and lymphoid tissues (1). Clinical presentation is characterized by the triad of (i) ichthyosis, i.e. ichthyosis linearis circumflexa (ILC) and/or congenital ichthyo...

Epidermal keratinocytes, late in their terminal differentiation, form cross-linked envelopes resistant to ionic detergent and reducing agent. Because the cross-linking process is catalyzed by the keratinocyte transglutaminase, the absence of active transglutaminase should result in failure of the keratinocyte to form a cross-linked envelope. Three keratinocyte strains bearing mutations in the k...