The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition

Abstract

Netherton Syndrome (NS) is a rare autosomal recessive hereditary ichthyosiform disease with a classical triad comprising of an ichthyosiform dermatosis, hair shaft abnormalities and atopic diathesis. There is a mutation in a gene named Serine Protease Inhibitor Kazal type-5 (SPINK5); a new type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. Skin manifestations include, Ichthyosis Linearis Circumflexa (ILC), polycyclic and serpiginous, erythematous plaques with characteristic migratory, doubleedged scale at the margins, or Congenital Ichthyosiform Erythroderma (CIE). Most of the patients have elevated immunoglobulin class E (IgE) and show atopic manifestations. Hair shaft abnormalities like pili torti and/or trichorrhexis nodosa, trichorrhexis invaginata, are seen. Here, we report a rare case of Netherton Syndrome having ILC and trichorrhexis nodosa with protein energy malnutrition in a five-yearold school going girl. She belonged to a poor socio-economic background and was worried about her physical appearance due to her skin lesions, causing psychosocial morbidity to her.

Keywords

• ichthyosis linearis circumflexa
• lekti
• spink5
• trichorrhexis nodosa