1.Sibling pair with incomplete features of Netherton Syndrome: A case report
Leonard Jansen M. Cua ; Benedicto Dl Carpio ; Eileen R. Morales ; Amelita Tanglao-de Guzman ; Amelia L. Torres ; Faye Elinore V. Kison ; Camelia Faye R. Tuazon ; Matthew David S. Parco
Journal of the Philippine Dermatological Society 2024;33(Suppl 1):7-7
Netherton Syndrome (NS) is characterized by a triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis. Diagnosis of NS poses a challenge due to its variable presentation and overlap with other dermatological conditions. Herein, we report a case of NS in a sibling pair, underscoring the challenges in diagnosis and genetic implications of this condition.
We present a case of an 8-year-old female and a 7-year-old male sibling pair, with Netherton Syndrome, who initially presented with atopic dermatitis and erythroderma without hair shaft abnormalities. Further investigation and genetic testing revealed homogeneous SPINK5 gene mutations in both patients, leading to the diagnosis of NS.
Early recognition and diagnosis of Netherton Syndrome are essential for proper management. In patients with early-onset atopic dermatitis resistant to treatment and recurrent erythroderma, further investigation is needed to exclude other diagnoses like Netherton Syndrome.
Human ; Male ; Female ; Child: 6-12 Yrs Old ; Netherton Syndrome
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