Netherton Syndrome

November 2019 in “ Harper's Textbook of Pediatric Dermatology ”

Wei‐Li Di, John Harper

Netherton syndrome ichthyosiform erythroderma trichorrhexis invaginata SPINK5 gene LEKTI protein serine protease inhibitor kallikreins KLK5 KLK7 skin barrier emollients topical steroids calcineurin inhibitors intravenous immunoglobulin serine protease inhibitor therapy gene therapy skin barrier protection IVIG

Studysummary 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.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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Research cited in this study

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research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

11 citations , January 2014 in “Dermatology”

This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

research Netherton Syndrome Associated With Growth Hormone Deficiency

21 citations , September 2013 in “Pediatric Dermatology”

This case report describes three patients with Netherton syndrome who experienced growth hormone deficiency and improved growth rates following growth hormone therapy.

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 Recurrent Bacterial Vaginosis and Netherton's Syndrome

4 citations , March 1999 in “International Journal of STD & AIDS”

This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.

research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings

124 citations , January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal 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 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 Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair)

72 citations , July 1984 in “Journal of Investigative Dermatology”

research Generalized Trichorrhexis Nodosa: A Case Study

28 citations , July 1980 in “British Journal of Dermatology”

This study describes a case of generalized trichorrhexis nodosa and finds that defects in alpha-keratin chain formation and low cystine levels in hair may contribute to the condition.

research Multiple Defects of the Hair Shaft in Netherton's Disease

58 citations , November 1969 in “British Journal of Dermatology”

This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.

research A Unique Case of Trichorrhexis Nodosa: Bamboo Hairs

264 citations , October 1958 in “Archives of Dermatology”

This report describes a 1949 case of a young girl with a rare congenital ectodermal defect causing unique hair fragility, which had not been previously documented in the literature.