TY  - JOUR
AU  - Rizkiani, Dwinanda Almira
AU  - Harsono, Erliana Tantri
AU  - Andayani, Raden Roro Rini
AU  - Rinonce, Hanggoro Tri
AU  - Trisnowati, Niken
AU  - Danarti, Retno
PY  - 2025
DA  - 2025/09/15
TI  - Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
JO  - OBM Genetics
SP  - 311
VL  - 09
IS  - 03
AB  - Netherton syndrome is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, leading to LEKTI protein dysfunction, impaired skin barrier function, and immune dysregulation. It manifests as a triad of ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), and atopic diathesis, often mimicking other inflammatory dermatoses. We report a 9-month-old Javanese Indonesian male infant presenting with extensive erythematous, scaly skin lesions and severe pruritus. Laboratory tests revealed elevated eosinophil count and high serum immunoglobulin E levels. Trichoscopic examination identified trichorrhexis invaginata, confirming clinical suspicion of Netherton syndrome. A skin biopsy further supported the diagnosis of this disease. The patient initially responded to topical corticosteroids, but symptoms recurred upon tapering. Systemic therapy with low-dose methotrexate was introduced, leading to a marked improvement in skin lesions and pruritus. This case highlights the importance of early recognition of the syndrome to initiate appropriate treatment and prevent misdiagnosis. Comprehensive management should address skin barrier restoration, inflammation control, and allergy management. Early multidisciplinary intervention can significantly improve the quality of life and reduce the risk of complications in affected patients.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2503311
DO  - 10.21926/obm.genet.2503311
ID  - Rizkiani2025
ER  -