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Glossary Netherton 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 KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype

87 citations , January 2017 in “PLoS Genetics”

This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.

research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses

59 citations , September 2021 in “Journal of Allergy and Clinical Immunology”

This study found IL-17/IL-36 signaling to be predominant in both endotypes of Netherton syndrome, with distinct molecular profiles between NS-ILC and NS-SE lesions, offering potential therapeutic targets.

research Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome

42 citations , January 2007 in “Pediatric dermatology”

This report describes an 11-year-old boy with Netherton syndrome who developed Cushing syndrome after using low-potency hydrocortisone ointment extensively, highlighting caution with long-term topical treatments in such conditions.

research Hair Shaft Videodermoscopy in Netherton Syndrome

41 citations , December 2008 in “Pediatric Dermatology”

This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.

research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome

30 citations , February 2015 in “Anais Brasileiros de Dermatologia”

This case report describes a 4-year-old boy with Netherton syndrome, where trichoscopy importantly aided diagnosis and is recommended for all children with erythroderma.

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