<img alt="" src=" />Which is not a feature of Netheon Syndrome
This autosomal recessive disorder is characterized by ichthyosis (usually ichthyosis linearis circumflexa but occasionally the lamellar or congenital ichthyosiform erythroderma types), trichorrhexis invaginata and other hair shaft anomalies, and atopic diathesis. Mutations in the gene SPINK 5, which encodes a serine protease inhibitor, have been identified in patients with Netheon syndrome. causes: *Netheon syndrome is an autosomal recessive disorder associated with mutations in the SPINK5 gene, which encodes the serine protease inhibitor lympho-epithelial Kazal-type-related inhibitor (LEKTI). These mutations result in a dysfunctional protein that has a reduced capacity to inhibit serine proteases expressed in the skin. Potential endogenous targets of LEKTI include KLK5, KLK7 and KLK14. These enzymes are involved in various aspects of epidermal remodelling, including desquamation, PAR-2 activation and degradation of lipid hydrolases, suggesting a potential mechanism for the development of atopic manifestations characteristic of Netheon syndrome. *Disease severity is determined by the level of LEKTI expression and, consequently, serine protease activity. Complete SPINK5 gene deletions have been linked to severe cases, while mutations which induce alternate splicing or create premature stop codons may lead to varying levels of severit.Fuhermore, LEKTI-knockout mice exhibit a phenotype similar to Netheon syndrome in humans Ref Harrison 20th edition pg 1234
Autosomal dominant
Ichthyosis
Very sho hair
Erythroderma
miscellaneous