Gene

Biology

Genodermatosis

Atopic dermatitis

Dermatology

Psoriatic arthritis

Genetics

Secukinumab

Medicine

Psoriasis

JAAD Case Reports

Netherton syndrome is an autosomal recessive disorder caused by mutations in the serine protease inhibitor Kazal type 5 gene.1 It was initially described by Comél2 and Netherton,3 and is also known as Comél-Netherton syndrome. The originally diagnostic triad described by Wilkinson et al4 consists of congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Although variable presentations have been described, the majority of patients with Netherton syndrome present with generalized erythroderma and scaling at birth that evolves into circinate plaques with a double-edged scale known as ichthyosis linearis circumflexa.

Successful use of secukinumab in Netherton syndrome