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Netherton syndrome information


Netherton syndrome
Other namesComèl-Netherton syndrome
Netherton syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics Edit this on Wikidata

Netherton syndrome is a severe, autosomal recessive[1] form of ichthyosis associated with mutations in the SPINK5 gene.[2][3] It is named after Earl W. Netherton (1910–1985), an American dermatologist who discovered it in 1958.[4]

  1. ^ Chao SC, Richard G, Lee JY (2005). "Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5". Br J Dermatol. 152 (1): 159–165. doi:10.1111/j.1365-2133.2005.06337.x. PMID 15656819. S2CID 22760789.
  2. ^ Chavanas S, Bodemer C, Rochat A (June 2000). "Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome". Nat. Genet. 25 (2): 141–142. doi:10.1038/75977. PMID 10835624. S2CID 40421711.
  3. ^ Cite error: The named reference Fitz2 was invoked but never defined (see the help page).
  4. ^ Netherton, E. W. A unique case of trichorrhexis nodosa: 'bamboo hairs.'. Arch. Derm. 78: 483-487, 1958.

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Netherton syndrome

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

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List of syndromes

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

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Hyperimmunoglobulin E syndrome

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

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Ichthyosis

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

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Stratum corneum

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

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Trichorrhexis invaginata

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

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Lamellar bodies

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

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LEKTI

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

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Lamellar ichthyosis

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

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Trichoscopy

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

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Dermatoscopy

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alopecia areata, female androgenic alopecia, monilethrix, Netherton syndrome, and woolly hair syndrome. Dermoscopy of hair and scalp is called trichoscopy....

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Ichthyosis linearis circumflexa

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is the typical cutaneous manifestation of Netherton's syndrome.: 496 : 563  Ichthyosis prematurity syndrome List of cutaneous conditions Freedberg, et...

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Pili torti

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mitochondrial diseases, Netherton syndrome, occipital horn syndrome, Olmsted syndrome, peeling skin syndrome, Salti-Salem syndrome, steatocystoma multiplex...

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List of primary immunodeficiencies

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Schimke syndrome MYSM1 deficiency MOPD1 deficiency EXTL3 deficiency Hyper IgE syndromes Job syndrome (STAT3 deficiency) Comel-Netherton syndrome PGM3 deficiency...

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List of skin conditions

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Naegeli–Franceschetti–Jadassohn syndrome (chromatophore nevus of Naegeli) Netherton syndrome Neurofibromatosis type 1 (von Recklinghausen's disease) Neurofibromatosis...

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Trichorrhexis nodosa

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disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy. Examination of the...

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KLK7

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several skin disorders including atopic dermatitis, psoriasis and Netherton syndrome. These diseases are characterised by excessively dry, scaly and inflamed...

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Lidia Rudnicka

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evaluation in genetic hair shaft abnormalities such as Netherton syndrome, monilethrix, wooly hair syndrome, pili torti, pili annulati and trichothiodystrophy...

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Chromosome 5

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3-Methylcrotonyl-CoA carboxylase deficiency Myelodysplastic syndrome Netherton syndrome Nicotine dependency Parkinson's disease Primary carnitine deficiency...

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Carly Findlay

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was 10 years old was diagnosed with a different form of ichthyosis, Netherton syndrome through genetic testing.[self-published source?] Findlay attended...

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Johann Heinrich Rille

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Helmut H. Wolff, Richard K. Winkelmann Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) Medscape Rudolf Erhard Riecke - bibliography at Who...

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Tacrolimus

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Grapefruit juice Occlusive dressing Known or suspected malignant lesions Netherton's syndrome or similar skin diseases Certain skin infections Side effects can...

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KLK14

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protease activity and residual LEKTI expression determine phenotype in Netherton syndrome". The Journal of Investigative Dermatology. 126 (7): 1609–21. doi:10...

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List of OMIM disorder codes

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syndrome, type 3; 610725; PLCE1 Nephrotic syndrome, type 4; 256370; WT1 Netherton syndrome; 256500; SPINK5 Neural tube defect; 182940; VANGL1 Neuroblastoma;...

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Borderline personality disorder

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PMID 22674745. S2CID 1674596. American Psychiatric Association 2000[page needed] Netherton SD, Holmes D, Walker CE (1999). Child and Adolescent Psychological Disorders:...

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Skallagrigg

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see intelligence that wasn't there). She is subsequently sent off to Netherton – an adapted school for highly gifted disabled students. Having squandered...

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List of fatal dog attacks in the United Kingdom

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November 2023. "Two people charged after woman died following dog attack in Netherton". 22 December 2023. "Man dies after attack by 'American bully XL' dogs...

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Ice Poseidon

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June 2022. "Cxcoin.net". Archived from the original on 30 August 2022. Netherton, Alexander (2022-11-15). "Brandon Buckingham vs. Ice Poseidon: Date, start...

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