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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.

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.

Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome

research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome

3 citations, January 2020 in “Acta Dermato Venereologica”

Netherton Syndrome can cause severe skin lesions in rare cases.

Trichoscopy in Unveiling the Triad of Netherton Syndrome

research Trichoscopy in Unveiling the Triad of Netherton Syndrome

January 2025 in “Clinical Dermatology Review”

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report

research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report

March 2024 in “Curēus”

Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.

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