Natural History and Biological Study of Netherton Syndrome

Syndrome de Netherton : Aspects Cliniques, Physiopathologiques et Identification de Cibles thérapeutiques

This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease.

Inclusion Criteria:

• Adult or child (no age limit)
• Confirmed diagnosis of Netherton syndrome
• Signed informed consent form for the patient or his legal representative

Exclusion Criteria:

• Bleeding disorder precluding skin biopsy