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