Netherton syndrome is a rare genetic disorder that affects the skin, hair, and immune system. It is characterized by a triad of symptoms: ichthyosis (a group of skin disorders causing dry, scaly skin), trichorrhexis invaginata (bamboo hair, where the hair shaft is twisted and breaks easily), and atopic diathesis (a predisposition to develop allergies and asthma).
Individuals with Netherton syndrome often experience red, inflamed skin with a tendency for infections. The severity of symptoms can vary widely, ranging from mild to severe. Infants may have a fragile skin barrier, making them more susceptible to dehydration and infections. As they grow older, the skin may become less scaly, but other symptoms like allergies and asthma may persist.
Due to its genetic nature, Netherton syndrome is typically present from birth and is caused by mutations in the SPINK5 gene. This gene provides instructions for producing a protein that helps regulate the activity of enzymes involved in skin barrier function.
Management of Netherton syndrome involves a multidisciplinary approach, including skincare measures, topical medications, and treatment of associated conditions. Genetic counseling may be beneficial for affected individuals and their families.