.../chorus/standard_publication_model ) Summary Background Loss‐of‐function mutations in the Kazal‐type serine protease inhibitor, LEKTI, encoded by the SPINK5 gene cause the rare autosomal recessive skin disease Netherton syndrome (NS). G1258A polymorphism in SPINK5 may be associated...

.../journals/pages/open_access/funder_policies/chorus/standard_publication_model ) caspase‐1 interleukin‐18 Netherton syndrome SPINK5 Sir, Netherton syndrome (NS) is an autosomal recessive inherited disorder characterized by congenital ichthyosis, trichorrhexis invaginata, and features of atopic...

... be involved in the pathogenesis of certain cornification disorders. Objectives Evaluation of the expression of PAI‐2 in different types of congenital ichthyosis, especially in lamellar ichthyosis/nonbullous congenital ichthyosiform erythroderma (LI/NCIE) and in Netherton syndrome (NTS). Demonstration...

... of SPINK5 mutations for Netherton syndrome, we searched for potential LEKTI target proteinases that fulfil important biological functions in the skin. Among these, two members of the kallikrein family of serine proteinases, hK5 ³ and hK7, ² appeared to be promising candidates...

... Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Summary Background Netherton syndrome (NS) is a severe autosomal recessive disorder characterized by ichthyosiform erythroderma, bamboo hair and atopy...

... in SPINK5 (amino acid changes R267Q, N368S, D386N; silent changes G463G, L786L, G804G). However, our patient harboured two causative mutations leading to a PTC, and therefore these polymorphisms were considered as nonpathogenic sequence variants. Ever since Netherton syndrome (NS) was linked...

... for a presumptive diagnosis of nonbullous CIE or lamellar ichthyosis. Figure 1 Pedigree of the family with Netherton syndrome (NS) with mutation of SPINK5. The sons are affected with NS; the father is a carrier. K754X, mutation in SPINK5; nl, normal DNA sequence. The birth of his younger brother...

... This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) Summary Background Netherton syndrome (NS) is a rare autosomal recessive...

...F.B. Müller; I. Haußer; D. Berg; C. Casper; R. Maiwald; A. Jung; H. Jung; B.P. Korge Abstract Summary Netherton syndrome (NS) is a rare autosomal recessive disease with variable expression. It is defined by a triad of symptoms: congenital ichthyosiform erythroderma, trichorrhexis invaginata...

.../pages/open_access/funder_policies/chorus/standard_publication_model ) Abstract We describe a 28‐year‐old woman with characteristic clinical signs of Comèl–Netherton syndrome (CNS) who showed numerous plane warts on her face and forearms and papillomatous skin tumours affecting her groins and genitoanal...

... (genetic or acquired), specific diseases such as Omenn syndrome, Netherton syndrome, acrodermatitis enteropathica, epidermolysis bullosa, and Langerhans cell histiocytosis. Malnutrition, usually kwashiorkor or marasmus, is suggested to be the main cause in low-income countries. A multidisciplinary approach...

... with fragile skin (blistering) and several with multisystem complications, such as Netherton syndrome. Salient features of each are reviewed with illustrations of selected cases and management is outlined. Two important neonatal presentations, collodion baby and harlequin ichthyosis, are described. dry...

... II. Lethal ichthyosis syndromes include Neu Laxova and Restrictive Dermopathy. Harlequin ichthyosis is also frequently lethal. Gene panels increasingly should be the first line diagnostic test. The clinical case presentation features an infant with Netherton syndrome. bamboo hair collodion membrane...