Two siblings with Netherton syndrome
Authors : Selma Emre, Ahmet Metin, D. Deniz Demirseren, Ahu Yorulmaz, Aykut Onursever, Burçin Kaftan
Pages : 819-823
View : 17 | Download : 6
Publication Date : 9999-12-31
Article Type : Makaleler
Abstract :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 manifestationsKeywords : Key words: Netherton syndrome, atopic diathesis, siblings, ichthyosis linearis circumflexa, trichorrhexis invaginata