Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. It is named after Earl W. Netherton...

available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic...

deficiency syndrome Neonatal ichthyosis–sclerosing cholangitis syndrome Nephritic syndrome Nephrotic syndrome Nerve compression syndrome Netherton syndrome Neu–Laxova...

with other hair shaft abnormalities, or regularly as a marker for Netherton syndrome.: 638 : 766–7  The primary defect appears to be abnormal keratinization...

classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively...

of the protease inhibitor LEKTI causes the debilitating disorder Netherton syndrome. Hyperkeratosis is an increased thickness of the stratum corneum,...

and lipid structure is abnormal in the epidermis of patients with Netherton syndrome, a skin disorder characterised by chronic inflammation and universal...

Sjögren-Larsson syndrome, Netherton syndrome, Gaucher disease type 2, congenital hypothyroidism, Conradi syndrome, Dorfman-Chanarin syndrome, ketoadipiaciduria...

differentiated keratinocytes. Mutations in the SPINK5 gene result in Netherton syndrome, a disorder characterized by ichthyosis and specific immune system...

that this method is especially helpful in diagnosing monilethrix, Netherton syndrome and other pediatric diseases. In 2008 the first atlas containing trichoscopy...