Two siblings with Netherton syndrome Netherton sendromlu kardeş olgular

Emre S., Metin A., Demirseren D. D., Yorulmaz A., Onursever A., Kaftan B.

Turkish Journal of Medical Sciences, vol.40, no.5, pp.819-823, 2010 (SCI-Expanded, Scopus, TRDizin) identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 5
  • Publication Date: 2010
  • Doi Number: 10.3906/sag-0904-12
  • Journal Name: Turkish Journal of Medical Sciences
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.819-823
  • Keywords: Atopic diathesis, Ichthyosis linearis circumflexa, Netherton syndrome, Siblings, Trichorrhexis invaginata
  • Ankara Yıldırım Beyazıt University Affiliated: No

Abstract

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.