Netherton Syndrome, a Case Report and Review of Literature

Netherton Syndrome (NS) is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after[1]. Its incidence is estimated to be 1/200,000[2]. NS presents in most (but not all) patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin[3]. Other common features of the disease are enteropathy, hypoalbuminemia, aminoaciduria, mental retardation, growth retardation, and immunologic abnormalities[4]. NS presents almost with a specific hair shaft abnormality known as “bamboo hair”[5]. The third characteristic feature of NS is an imbalance of the immune system. Serum level of IgE is markedly elevated[6]. Treatment is symptomatic such as topical emollients, keratolytics, tretinoin and corticosteroids, alone or in combination. PUVA therapy has produced variable results[7]. We present a case of NS with a positive familial history, admitted due to failure to thrive and erythroderma and severe diarrhea. The diagnosis was based on clinical as well as histological findings.