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      Severe Hypernatremia as Presentation of Netherton Syndrome

      research Severe Hypernatremia as Presentation of Netherton Syndrome

      November 2023 in “Global Medical Genetics”
      This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

      research Netherton Syndrome

      November 2019 in “Harper's Textbook of Pediatric Dermatology”
      This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.
      Bamboo Hair Syndrome or Netherton Syndrome: A Case Report

      research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report

      April 2017 in “IOSR journal of dental and medical sciences”
      This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.

      research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings

      124 citations , January 1995 in “ˆThe ‰journal of allergy and clinical immunology/Journal of allergy and clinical immunology/˜The œjournal of allergy and clinical immunology”
      This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

      research Netherton's syndrome and ichthyosis linearis circumflexa.

      15 citations , April 1970 in “PubMed”
      This letter describes a case of a 22-year-old woman with ichthyosis serpentina and related symptoms, suggesting it as a variant form of ichthyosis associated with bamboo hair, without necessarily including atopic features.

      research Canestick Lesion of Vellus Hair in Netherton's Syndrome

      9 citations , April 1985 in “Archives of Dermatology”
      This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.

      research [Netherton's syndrome in two sisters].

      3 citations , June 2002 in “PubMed”
      This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.

      research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA

      2 citations , April 1970 in “Archives of Dermatology”
      This report discusses a case of ichthyosis serpentina, suggesting it as a variant of ichthyosis associated with bamboo hair, although atopy may not be a necessary component.

      research Netherton's Syndrome.

      January 1998 in “The Nishinihon Journal of Dermatology”
      A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
      Inherited Ichthyosis: Syndromic Forms

      research Inherited ichthyosis: Syndromic forms

      47 citations , March 2016 in “Journal of dermatology”
      This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
      Ichthyosis

      research Ichthyosis

      147 citations , January 2003 in “American journal of clinical dermatology”
      This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
      Trichoscopy in Genetic Hair Shaft Abnormalities

      research Trichoscopy in genetic hair shaft abnormalities

      74 citations , July 2008 in “Journal of Dermatological Case Reports”
      This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.

      research Dupilumab in Inflammatory Skin Diseases: A Systematic Review

      72 citations , March 2023 in “Biomolecules”
      This study reviewed the use of dupilumab, beyond its approved indications for atopic dermatitis and prurigo nodularis, and found effective treatment reports for various chronic inflammatory skin diseases such as bullous autoimmune diseases, eczema, and alopecia areata, highlighting its broad potential in dermatology.
      The Genetics of Hair Shaft Disorders

      research The genetics of hair shaft disorders

      59 citations , June 2008 in “Journal of The American Academy of Dermatology”
      This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
      Dupilumab: A Review of Present Indications and Off-Label Uses

      research Dupilumab: A Review of Present Indications and Off-Label Uses

      50 citations , March 2021 in “Journal of investigational allergology & clinical immunology”
      This review examines existing research and clinical trials on the use of dupilumab for various skin, respiratory, and gastrointestinal disorders, but it reports no new clinical findings.
      Trichoscopy

      research Trichoscopy

      44 citations , August 2008 in “Archives of Dermatology”
      This abstract provides no results; it is a website notification about cookies and general access to JAMA content.
      Trichoscopy in Hair Shaft Disorders

      research Trichoscopy in Hair Shaft Disorders

      36 citations , August 2018 in “Dermatologic Clinics”
      This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.