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GlossaryNetherton Syndrome

rare genetic disorder causing skin inflammation and brittle hair

Netherton Syndrome is a rare genetic disorder characterized by chronic skin inflammation, a distinctive hair shaft abnormality called trichorrhexis invaginata (bamboo hair), and a predisposition to allergies and infections. It is caused by mutations in the SPINK5 gene, which affects the skin's barrier function, leading to symptoms like red, scaly skin and brittle hair.

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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”

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.

research Netherton's Syndrome And Ichthyosis Linearis Circumflexa

15 citations , April 1970 in “PubMed”

Netherton's syndrome may have a familial link and doesn't always include atopy.

research Canestick Lesion of Vellus Hair in Netherton's Syndrome

9 citations , April 1985 in “Archives of Dermatology”

Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.

research Recurrent Bacterial Vaginosis and Netherton's Syndrome

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

Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.

research Netherton's Syndrome in Two Sisters

3 citations , June 2002 in “PubMed”

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

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