PATOGENESIS DAN PENDEKATAN DIAGNOSTIK SINDROM NETHERTON
DOI:
https://doi.org/10.33820/mdvi.v49i1.228Keywords:
diagnosis, patogenesis, sindrom NethertonAbstract
Sindrom Netherton merupakan genodermatosis autosomal resesif karena mutasi gen serine peptidase inhibitor Kazal type 5 (SPINK5) yang mengkode lymphoepithelial Kazal-type inhibitor (LEKTI). Defisiensi LEKTI menyebabkan berbagai perubahan fisiologis yang mengakibatkan kerusakan sawar kulit. Peningkatan kallikrein (KLK) khususnya KLK 5, 7, dan 14 akan mendegradasi desmosom dan korneodesmosom sehingga stratum korneum terlepas. Peningkatan elastase (ELA) 2 menyebabkan degradasi filaggrin dan abnormalitas lipid sehingga sawar kulit terganggu. Aktivasi PAR-2 dan peran katelisidin mencetuskan reaksi alergi dan inflamasi. Sindrom Netherton memiliki gejala klinis yang mirip beberapa dermatosis lain sehingga kadang tidak terdiagnosis. Diagnosis ditegakkan dengan pendekatan klinis yang komprehensif, pemeriksaan laboratorium, histopatologi, serta pewarnaan imunohistokimia. Pemeriksaan rambut dapat menggunakan trikoskopi, mikroskop cahaya, atau mikroskop elektron. Pemeriksaan genetik molekular dengan DNA sequencing dapat mengonfirmasi diagnosis dan memungkinkan konseling genetik yang lebih tepat.
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