Two siblings with Netherton syndrome Netherton sendromlu kardeş olgular
Turkish Journal of Medical Sciences, cilt.40, sa.5, ss.819-823, 2010 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 40 Sayı: 5
- Basım Tarihi: 2010
- Doi Numarası: 10.3906/sag-0904-12
- Dergi Adı: Turkish Journal of Medical Sciences
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.819-823
- Anahtar Kelimeler: Atopic diathesis, Ichthyosis linearis circumflexa, Netherton syndrome, Siblings, Trichorrhexis invaginata
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
Aim: Netherton syndrome (NS) is a rare genodermatosis characterized by autosomal recessive inheritance pattern, unknown etiology, ichthyosiform cutaneous changes, atopic diathesis, and alterations in the hair shaft. As a result of aging coupled with immune deficiency, clinical symptoms may vary. Herein, we present 2 siblings with the characteristic cutaneous symptoms of NS, albeit with some differences between the siblings. Materials and methods: Two sisters presented to our clinic with sparse and brittle hair along with pruritic, erythematous, and scaling cutaneous lesions. Both patients underwent a clinical examination and laboratory analyses. Results: Based on the clinical and laboratory findings, both patients were diagnosed with Netherton syndrome. Conclusion: The cases were reported because of the rarity of the disorder and simultaneous occurrence in 2 siblings, while aiming to highlight the variable nature of the clinical manifestations. © TÜBİTAK.