Neterthon Syndrome Revealed by Recurrent Skin Infections: A Case Report

Abstract

Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of symptoms including a scaly skin condition known as circumflex linear ichthyosis, hair shaft abnormalities known as trichorrhexis invaginata, and an atopic terrain which predisposes patients to allergic reactions and asthma. The disorder is caused by mutations in the SPINK5 gene which encodes for a serine protease inhibitor called LEKTI. This leads to a disruption in the skin's natural barrier function and a hyperactive immune response, resulting in the characteristic symptoms of NS. Newborns with NS may have a poor prognosis, with possible life-threatening complications and high postnatal lethality. However, the symptoms can improve with age and growth, and management of the disorder is aimed at controlling the symptoms and preventing complications such as infections. Symptomatic treatment for cutaneous xerosis and management of infections are commonly used. Additionally, topical emollients and systemic immunoglobulin therapy may be used to help manage the condition. We present a clinical case that can help raise awareness about rare diseases such as Netherton syndrome and improve early diagnosis and management. It is important for healthcare providers to be familiar with the clinical and etiological characteristics of these conditions to ensure that patients receive appropriate care and treatment. The reported case is an infant of 3 months old, who presents from the age of 2 months a cutaneous xerosis under the care of a dermatologist, and managed by symptomatic treatment. Based on the clinical presentation and examination (The hair trichoscopy), the infant have Netherton syndrome with a superimposed bacterial infection leading to ichthyosis linearis circumflexa superinfected.