Incomplete Netherton Syndrome treated successfully with Isotretinoin
Year: 2026
Type: article
Study design: Case Report
Abstract: Netherton syndrome is a rare autosomal recessive ichthyosis caused by serine peptidase inhibitor Kazal 5 mutation, characterized by congenital ichthyosis, trichorrhexis invaginata, atopy, high serum immunoglobulin E levels, and hyper eosinophilia. The demonstration of bamboo hair by microscopy is used as a method to diagnose Netherton syndrome. We report a rare patient with Netherton syndrome confirmed by genetic analysis and protein expression studies who had normal hair and was successfully treated with low dose isotretinoin, without any adverse events.
Source: Clinical Dermatology Review
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7119509286