Turkish Journal of Medical Sciences
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
DOI
10.3906/sag-0904-12
Keywords
Netherton syndrome, atopic diathesis, siblings, ichthyosis linearis circumflexa, trichorrhexis invaginata
First Page
819
Last Page
823
Recommended Citation
EMRE, S, METİN, A, DEMİRSEREN, D. D, YORULMAZ, A, ONURSEVER, A, & KAFTAN, B (2010). Two siblings with Netherton syndrome. Turkish Journal of Medical Sciences 40 (5): 819-823. https://doi.org/10.3906/sag-0904-12
