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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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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.

Successful Induction of Oral Tolerance in Netherton Syndrome

research Successful Induction of Oral Tolerance in Netherton Syndrome

11 citations , October 2011 in “Allergologia et immunopathologia”

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.

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