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
Netherton syndrome, atopic diathesis, siblings, ichthyosis linearis circumflexa, trichorrhexis invaginata
EMRE, SELMA; METİN, AHMET; DEMİRSEREN, D. DENİZ; YORULMAZ, AHU; ONURSEVER, AYKUT; and KAFTAN, BURÇİN
"Two siblings with Netherton syndrome,"
Turkish Journal of Medical Sciences: Vol. 40:
5, Article 22.
Available at: https://journals.tubitak.gov.tr/medical/vol40/iss5/22