DOAJ Open Access 2026

Incomplete Netherton Syndrome treated successfully with Isotretinoin

Saritha Mohanan Shamma Aboobacker Kaliaperumal Karthikeyan

Abstrak

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.

Topik & Kata Kunci

Penulis (3)

S

Saritha Mohanan

S

Shamma Aboobacker

K

Kaliaperumal Karthikeyan

Format Sitasi

Mohanan, S., Aboobacker, S., Karthikeyan, K. (2026). Incomplete Netherton Syndrome treated successfully with Isotretinoin. https://doi.org/10.4103/cdr.cdr_63_25

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Informasi Jurnal
Tahun Terbit
2026
Sumber Database
DOAJ
DOI
10.4103/cdr.cdr_63_25
Akses
Open Access ✓