Title of article :
Two siblings with Netherton syndrome
Author/Authors :
EMRE, Selma Atatürk Training and Research Hospital - Department of Dermatology, TURKEY , METIN, Ahmet
Abstract :
Aim: 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
Journal title :
Turkish Journal of Medical Sciences (TJMS)
Journal title :
Turkish Journal of Medical Sciences (TJMS)