Netherton Syndrome

Abstract

This case report describes dry skin with marked redness of the face and hands as well as trichorrhexis invaginata.

Newborn Girl Presenting With Erythema and Blisters

“…Netherton syndrome (NS) is a rare, multisystemic, autosomal recessive genetic disorder caused by SPINK5 variations. It classically presents as congenital ichthyosiform erythroderma with hair shaft abnormalities and atopic diathesis . Erythematous plaques with double-edged marginal scale are typical features of NS.…”

“…It classically presents as congenital ichthyosiform erythroderma with hair shaft abnormalities and atopic diathesis. 10 Erythematous plaques with double-edged marginal scale are typical features of NS. It can be misdiagnosed as similar disorders, including AEI, because patients do not always exhibit the complete triad.…”