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

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

87 citations , January 2017 in “PLoS Genetics”

Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.

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

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

42 citations , January 2007 in “Pediatric dermatology”

Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.

research Hair Shaft Videodermoscopy in Netherton Syndrome

41 citations , December 2008 in “Pediatric Dermatology”

Trichoscopy can diagnose Netherton syndrome without pulling hairs.

research Trichoscopy as a Diagnostic Tool in Trichorrhexis Invaginata and Netherton Syndrome

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

Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.

research Netherton Syndrome Associated With Growth Hormone Deficiency

21 citations , September 2013 in “Pediatric Dermatology”

Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.

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