Quick Facts about Netherton Syndrome
Netherton syndrome, a less common form of ichthyosis, is a monogenic cutaneous condition characterized by congenital scaly erythroderma, evolving into typical erythematous patches with peripheral scaling, hair shaft abnormalities, and atopic manifestation.
Netherton syndrome can appear at birth or within the first few weeks of life.
It is caused by deleterious mutations in the SPINK5 gene encoding the LEKTI1, resulting in elevated cytokine levels in the IL-17/IL-36 pathway.
The existing pharmacological therapies for Netherton syndrome are symptomatic and include emollients, keratolytics, and oral retinoids. The efficac...
