Two siblings with Netherton syndrome

Authors: SELMA EMRE, AHMET METİN, D. DENİZ DEMİRSEREN, AHU YORULMAZ, AYKUT ONURSEVER, BURÇİN KAFTAN

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 manifestations

Keywords: Netherton syndrome, atopic diathesis, siblings, ichthyosis linearis circumflexa, trichorrhexis invaginata

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