Two siblings with Netherton syndrome
| Autor: | BURÇİN KAFTAN, AYKUT ONURSEVER, AHU YORULMAZ, D. DENİZ DEMİRSEREN, AHMET METİN, SELMA EMRE |
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| Jazyk: | turečtina |
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Volume: 40, Issue: 5 819-823 Turkish Journal of Medical Sciences |
| ISSN: | 1300-0144 1303-6165 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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