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This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

This article presents a comprehensive overview of hair microscopy techniques and their diagnostic potential for systemic and cutaneous disorders, emphasizing its usefulness in resource-limited settings and highlighting the underutilization of this non-invasive method due to lack of awareness.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

This clinical case report presents photographs of a patient with Netherton syndrome, highlighting severe inflammatory vegetative lesions on the pubic area and umbilicus.

This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.