Natural History of Netherton Syndrome

Inclusion Criteria

• •1. Confirmed diagnosis of NS by at least one of the following:
• •* Genetic testing of mutations in Serine Protease Inhibitor of Kazal Type 5 (SPINK5);
• •* Absence or major deficiency of the protein Lympho-Epithelial Kazal-Type-Related Inhibitor (LEKTI) in skin biopsy;
• •* Clinical assessment (signs and symptoms).
• •2. Provision of consent or assent (i.e., by parent or legal guardian) as required by local regulations:
• •* \[Part 1\] to authorise access to existing medical records for study data collection;
• •* \[Part 2\] to participate in the longitudinal 52-week evaluation of disease severity and clinical outcome assessments.
• •\[for Part 2 only\]
• •3. Not participating in a clinical trial at the time of study enrolment for Part 2.