Infliximab therapy for Netherton syndrome: A case report

KLK5: kallikrein 5 NS: Netherton syndrome PAR2: protease-activated receptor 2 SPINK5: serine protease inhibitor Kazal type 5 Th: helper T cell TNF: tumor necrosis factor TSLP: thymic stromal lymphopoietin INTRODUCTION Netherton syndrome (NS), also known as Com elNetherton syndrome, was clinically described in 1964 by Wilkinson et al and is characterized by the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. The single entities, ichthyosis linearis circumflexa and the ‘‘bamboo hair’’ were previously described by Com el in 1949 and Netherton in 1958, respectively. The incidence of NS is 1 per 200,000 births; however, this number is probably underestimated. Not only is NS a challenging diagnosis, but it is also easily misdiagnosed as atopic dermatitis. The clinical presentation of NS is variable. In most patients, a generalized erythroderma and scaling is observed at birth or soon after andmay be associated with potentially fatal complications, such as hypernatremia, altered thermoregulation, failure to thrive, and sepsis. Ichthyosis linearis circumflexa develops gradually and is characterized by a serpiginous or circinate scaling and pruriginous polycyclic erythematous plaques with a doubleedged scale, frequently distributed on the trunk and extremities. Moreover, many patients present with eczematous plaques in flexural sites, resembling atopic dermatitis. Hair shaft abnormalities, characteristically trichorrhexis invaginata, are predominantly found in infancy or early childhood. Scalp hair grows slowly and is sparse, thin, and fragile. Lastly, immune imbalance is also a characteristic feature of NS and includes elevation of IgE, eosinophilia, and allergic reactions. We present the case of a 19-year-old woman with NS treated with infliximab.